Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies.

In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families.

• The growing role of whole genome sequencing in rare disease diagnosis
• How healthcare systems and clinical practices are adopting genome sequencing
• How whole genome sequencing is changing pediatric patient care
• Why some patients remain undiagnosed after initial WGS testing
• The current diagnostic gap in rare disease genetics
• Efforts underway to improve diagnostic yield
• What a multimodal and multi-omic approach looks like in practice
• How optical genome mapping and long-read sequencing complement WGS
• How labs determine when to layer on additional technologies
• The real-world impact of a confirmed diagnosis on treatment and trial access

Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients.

Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients.

• Learn more about Baylor Genetics here
• Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies
• Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases
• AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
• Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays
• Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”
• Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.
• Undiagnosed Disease Network

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections 

#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

#376 Why Females with Fabry Disease Aren’t “Just Carriers”

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize. 

In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease. 

We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine. 

• Why DNA should not be viewed as static
• What somatic mutations are and why they matter
• The concept of mosaicism and what it means that every human is a mosaic
• How Darwinian evolution can happen within the body
• How mutation supports antibody diversity and immune defense
• Clonal hematopoiesis and its links to cardiovascular disease and aging
• Phenocopies and how spontaneous mutations can mimic inherited disease
• Cases where cells appear to self-correct through additional mutations
• Whether mutation accumulation may help drive aspects of aging

Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here.

• Progeria
• Werner syndrome 
• Hyper IgM syndromes
• Adenosine deaminase severe combined immune deficiency (ADA-SCID)
• VEXAS syndrome 
• ​​Paroxysmal nocturnal hemoglobinuria (PNH) 
• Duchenne muscular dystrophy (DMD)

• 1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin 
• 1916 - Ernest Tyzzer  first used the term ‘somatic mutation’ with respect to a tumour
• 1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick 
• 1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell
• 2003 - First draft of the human genome is announced complete.  

• Early somatic mosaicism is a rare cause of long-QT syndrome
• Variations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences. 
• The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis 
• How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis. 
• Trisomy rescue 

• Kira’s Favorite - Orphan Black
• Roxanne’s Favorite - Gattaca

#110 Gattaca, 22 Years Later

#134 Dr. Kat Arney on Cancer Evolution

#202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde

#250 Orphan Black: The Next Chapter with Madeline Ashby

#297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman

#306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics

#351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome)

#365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

In this episode of DNA Today, we explore focal segmental glomerulosclerosis (FSGS), APOL1-mediated kidney disease (AMKD), and the real-life impact of navigating a rare kidney disease diagnosis as a young adult.

Joining the show is Emani McConnell-Brent, who shares her personal experience living with FSGS, from early symptoms and delayed diagnosis to the emotional toll of learning her kidney disease is genetic.

Also featured is Dr. Pranav Garimella, Chief Medical Officer at the American Kidney Fund, who explains the science behind FSGS, when genetic testing for conditions such as AMKD should be considered, and why earlier recognition of kidney disease symptoms can make such a meaningful difference.

Together, they discuss the importance of listening to patients, not dismissing early warning signs like protein in the urine, and improving access to genetic evaluation for people with unexplained kidney disease or a family history of kidney problems.

Emani also opens up about how kidney disease changed her daily life, from monitoring her blood pressure and swelling to adjusting her plans, energy, and expectations as a young adult. Her story is a powerful reminder that earlier diagnosis does not just impact medical management,  it can also shape a person’s mental health, future planning, and sense of control.

The episode also highlights the work of the American Kidney Fund, including its mission to support people living with kidney disease through education, advocacy, prevention, and resources for both patients and healthcare providers.

• What focal segmental glomerulosclerosis (FSGS) is
• How FSGS affects kidney function
• Emani McConnell-Brent’s journey to diagnosis
• The role of APOL1 genetic risk variants in kidney disease
• Why persistent protein in the urine should not be overlooked
• When genetic testing may be appropriate in kidney disease evaluation
• The mental health and lifestyle impact of chronic kidney disease in young adults
• How the American Kidney Fund supports patients, families, and providers

Emani McConnell-Brent is a full-time student at Bowie State University majoring in psychology. She is an advocate for kidney health and mental health. Despite Emani’s diagnosis of focal segmental glomerulosclerosis (FSGS) in 2020, she has invariably displayed ambition, resilience and transparency. She refuses to allow her diagnosis or any lifelong outcomes to dictate her success. Instead, she views her diagnosis as an opportunity for advocacy and education. Emani has since devoted her platform to telling her story and to bringing awareness to APOL1-mediated kidney disease and health disparities among African Americans. 

Dr. Pranav Garimella, MBBS, MPH, FASN, joined the American Kidney Fund as its first Chief Medical Officer in January 2025. A board-certified nephrologist and nationally recognized leader in rare kidney diseases, he also serves at UC San Diego Health as Director of Acute Dialysis Services and the Polycystic Kidney Disease Center of Excellence. Dr. Garimella is an accomplished researcher focused on kidney function, cardiovascular disease, bone health, and mortality, with NIH-funded work and more than 110 peer-reviewed publications. He is also a trained epidemiologist, frequent journal reviewer, and fellow of the American Society of Nephrology. 

• American Kidney Fund (AFK) 
• AKF's Unknown Causes of Kidney Disease Project
• AKF’s Continuing education opportunities 
• AKF’s Explanation of APOL1-mediated kidney disease (AMKD) 
• Emani McConnell-Brent’s Instagram and LinkedIn advocacy 
• MedlinePlus’ Page on focal segmental glomerulosclerosis (FSGS)

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

You may know Prince as one of the most influential musicians of all time, but in this episode, we step beyond the public image and into a far more intimate story: Prince and Mayte as expectant parents, the profound love they shared for their son Amiir, and the devastating medical journey that followed after his birth.

Mayte reflects on pregnancy, the bond she and Prince formed with Amiir before he was born, the difficult decisions they faced, and what it meant to navigate a rare diagnosis in the 1990s before information was as accessible as it is today. 

Kira also provides helpful context on Pfeiffer syndrome, including its genetics, symptoms, and why Amiir’s diagnosis of the severe type 2 form carried such serious medical challenges.

This conversation also explores grief — both private and public — as Mayte shares what it was like to mourn Amiir while under the intense pressure of public life. She offers moving insight for parents who feel pressure to hide their pain, and reflects on how writing her memoir, The Most Beautiful: My Life with Prince, became part of her healing.

The episode closes on legacy: not only Prince’s legacy as a global music icon, but his humanitarian spirit and the work that continues through Live 4 Love Charities, the nonprofit founded in memory of Amiir and rooted in Prince’s philanthropic vision.

This month marks 10 years since Prince passed away, and also 30 years since their son Amiir died. Mayte is honoring them both through a special Live 4 Love Charities Glam Slam Benefit in Los Angeles on April 21st, 2026.

• Prince and Mayte’s bond with Amiir during pregnancy
• Why they declined amniocentesis during the pregnancy
• What Pfeiffer syndrome type 2 is and how it differs from other forms
• The genetics of Pfeiffer syndrome, including FGFR2 and de novo variants
• The medical complexity of Amiir’s care after birth
• Prince as a father behind the public persona
• Grief, public image, and the pressure to “perform” wellness
• Mayte’s memoir and why she chose to tell this story
• The legacy of Amiir
• Prince’s humanitarian legacy beyond music
• Mayte’s leadership of Live 4 Love Charities
• The upcoming Glam Slam Benefit on April 21st honoring Prince’s life and impact

Mayte Garcia is a Puerto Rican dancer, choreographer, actress, singer, author, and philanthropist. A professional belly dancer since age three, she became internationally known as Prince’s muse, collaborator, featured dancer for the New Power Generation, and later his first wife. She is the author of the memoir The Most Beautiful: My Life with Prince.

Mayte has appeared in numerous film and television projects, including Hollywood Exes, Army Wives, Psych, The Closer, and Nip/Tuck. She now leads Live 4 Love Charities, continuing a mission rooted in compassion, service, creative empowerment, and honoring the legacy of both Prince and their son, Amiir, who died from a genetic condition called Pfeiffer Syndrome. 

• • Mayte Garcia’s memoir: The Most Beautiful: My Life with Prince
  • Live 4 Love Charities
    • Love In Action Program
    • Stillborn And Infant Loss Support (S.A.I.L.S.), receipt of a $10,000 donation from the Love in Action Program. You can watch Mayte Garcia call the program to break the good news here. 
    • Live 4 Music Program
    • Live for Dance Program 
  • Glam Slam Benefit Tickets

• Pfeiffer Syndrome:

• MedlinePlus’ Page 

• • NORD Page
  • Born A Hero, Research Foundation for all FGFR conditions 

#281 Tay-Sachs with Dr. Matthew Goldstein (regarding his late daughter Havi)

#315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally (regarding Dr. Leibman’s late niece) 

On April 21, 2026, Live 4 Love Charities will host its Glam Slam Benefit at the W Hollywood, an evening dedicated to celebrating Prince’s lasting cultural and philanthropic legacy.

The event will feature performances by Paisley Park alumni, joined by the Mpls All Star Band made up of former Paisley Park musicians, with additional special guests including Taylor Dayne, Sheila E, and more to be announced.

Now led by Mayte Garcia, Live 4 Love Charities continues the mission Prince began: uplifting communities through compassion, creative empowerment, youth development, arts education, and healing. Through programs like Live 4 Dance and Live 4 Music, the organization helps mentor and empower the next generation of young artists.

You can get tickets for their Grand Slam Benefit here. 

Learn more about the charity and the Glam Slam Benefit here: https://live4lovecharities.org/

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this episode, we are joined by two world-renowned experts to discuss the current landscape of Danon disease research: Dr. Barry Greenberg and Dr. Cordula Wolf. We dive deep into the mechanics of the disease, the importance of the LAMPLIGHT-NH observational study, and the groundbreaking LAMPLIGHT-2 interventional gene therapy trial.

• Dr. Barry Greenberg (US): A pioneer in heart failure research and Director of the Advanced Heart Failure Program at UC San Diego.
• Dr. Cordula Wolf (Germany): A leading expert in pediatric cardiology and congenital heart defects, specializing in the clinical management of metabolic cardiomyopathies.

Danon disease is fundamentally a "traffic jam" at the cellular level. Without a functional LAMP2 gene, lysosomes cannot fuse with autophagosomes, leading to a buildup of cellular debris.

• The Impact: This manifests primarily as hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability.
• The Cardiac Threat: For many patients, especially males, the disease progresses rapidly toward end-stage heart failure or sudden cardiac death, often requiring heart transplants at a young age.

If you are treating a patient with a confirmed or suspected LAMP2 pathogenic variant, your referral to a study site can change the trajectory of their care.

• Observational (LAMPLIGHT-NH)
  • Best for gathering data without changing current management.
  • Natural History Study (LAMPLIGHT-NH): ClinicalTrials.gov NCT06214507
• Interventional (LAMPLIGHT-2)
  • A Phase 2 trial for those meeting specific cardiac and age requirements.
  • Interventional Study (RP-A501): ClinicalTrials.gov NCT06092034

• Official Study Website: LAMPLIGHT Studies

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway.

The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives.

Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss:

• The role of the NEU1 gene and how mutations lead to cellular dysfunction.
• The two primary forms of the condition (Type I and Type II) and their clinical presentations.
• Why Sialidosis is frequently misdiagnosed or overlooked by clinicians.

Daily Life & Advocacy What does it look like to manage a rare condition day-to-day? Faith offers a candid look at the balance between medical management and the psychosocial burden on patients and siblings. Dan discusses how his personal and familial connection fueled the mission of Cure Sialidosis.

The Future of Treatment: Gene Therapy We look toward the horizon of rare disease research. Sialidosis is currently entering the pre-clinical gene therapy stage, where the goal is to correct the NEU1 gene. Dan provides an update on the status of enzyme replacement and the global drive to raise funds for manufacturing the treatments required for human trials scheduled for 2026.

Dan Peach is a founding member of Cure Sialidosis and a board member of Cure Mucolipidosis. As one of five siblings, three of whom were affected by Sialidosis, his connection to the disorder is profound. Since helping facilitate the diagnosis of his brother Antonn and sister Faith, Dan has become a dedicated patient-researcher. He leads a global community of patients, clinicians, and researchers, collaborating worldwide to address the root causes of the disease and improve outcomes for all affected.

Faith Sinclair is a patient advocate living with Sialidosis, and sister to Dan. Her journey from years of medical uncertainty to a definitive diagnosis has made her a vital voice in the rare disease space, dedicated to sharing the unique perspectives of patients and their families.  

CureSialidosis.org

Kiwi siblings battling rare genetic condition

Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald 

#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

#376 Why Females with Fabry Disease Aren’t “Just Carriers” 

#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy

#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)

#281 Tay-Sachs with Dr. Matthew Goldstein

#171 Farber Disease with Aceragen 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Shoutout to the lead organizer Anthony Zuo for putting this conference together. 

David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency.

Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome. 

Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful. 

Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast.

A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer.

David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort.

Kate shares a heartbreaking story of "Systemic Trauma":

• The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch.
• The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier."

Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change.

Relevant Resources: 

• • Jill Gassman Zullo’s book Brokenly Beautiful

• Jonathan Cappiello’s podcast 1 of 20 podcast

• Kate Tokarski’s poem I Was 'That Mom' 
• National Organization for Rare Disorders (NORD)
• Undiagnosed Disease Network (UDN)
• Genetic and Rare Diseases Information Center (GARD)

Relevant Rare Disease Patient Advocacy Stories on DNA Today:

#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency

Connect With Us:  

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties.

Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care.

In This Episode, We Discuss

• Building a Medical Home
  • What a “medical home” means for children with achondroplasia
  • Common concerns families raise after a new diagnosis, beyond height
  • Supporting families early while planning for long-term care
• Co-Morbidities & Clinical Complications
  • Key conditions clinicians should monitor in infants and children, including:
    • Foramen magnum stenosis
    • Hydrocephalus
    • Sleep apnea
    • ENT issues like recurrent ear infections and hearing loss
  • Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs
  • How chronic pain presents and is managed across childhood and adulthood
• Living With Achondroplasia
  • How medical needs evolve from childhood into adolescence and adulthood
  • The role of fatigue, mobility limitations, and accessibility in daily life
  • Balancing medical care with childhood independence and normalcy
  • Under-recognized burdens that significantly affect patients and families
• Multidisciplinary Care in Practice
  • What a full skeletal dysplasia care team looks like
  • How palliative care supports symptom management, decision-making, and quality of life
  • Coordinating care across specialties like orthopedics, neurosurgery, ENT, and audiology
  • Preventing communication breakdowns between providers
  • Helping families navigate complex choices around interventions and surgeries
• Looking Ahead
  • Gaps in current care models for achondroplasia
  • How emerging treatments are changing long-term planning conversations
  • Key takeaways for providers who may only occasionally care for patients with achondroplasia

Our Guest Dr. Ricki Carroll:

Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee.

Achondroplasia Resources: 

• Little People of America (LPA) 
• Dwarf Athletic Association of America (DAAA) 
• International Achondroplasia Forum 
• Achondroplasia GeneReviews 
• Achondroplasia Growth Charts
• Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. 
• Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010
• Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017 

Relevant Skeletal Dysplasia DNA Today Episodes: 

• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer 

• #301 Dwarfism with Colleen Gioffreda 

• • #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders) 

• #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment)

Be on the lookout for our third and final episode in this series about achondroplasia sponsored by BioMarin. 

Connect With Us:

Luckily, you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing.

Our episode is broken into three segments…

• Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands
• Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro
• Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger 

Relevant Resources: 

Baylor Genetics Segment Resources: 

• Baylor Genetics Announces Enhanced Whole Genome Sequencing Test
• Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies 
• AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay

Illumina Segment Resources: 

• Genomewide Sequencing Ontario Project 
• Illumina’s Emedgene variant interpretation software 
• Illumina’s Grand Rounds in Genomic Medicine 
• Genome Aggregation Database (gnomAD) 

Ambry Genetics Segment Resources: 

• Ambry Genetics’ Patient for Life website and white paper
• Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield 
• Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics 
• Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access”

Relevant DNA Today Podcast Episode:

#182 Eric Green on the Complete Human Genome Project

#231 ChatGPT and AI In Genetics with Daniel Uribe

#285 AI To Enhance Variant Curation with Daniel Uribe

#297 Exome Reanalysis with Ambry Genetics

#303 RNA Analysis with Ambry Genetics

#325 Revolutionizing Variant Curation with MAVEs

#334 ACMG 2025 Recap

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections

#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

Upcoming Conferences:

In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026…

• Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego 
• Podcast Movement in September in New York City 
• American Society of Human Genetics (ASHG) in October in Montreal
• National Society of Genetic Counselors (NSGC) in November in Baltimore  

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases.

Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients.

• RNAseq 101: What RNA sequencing is and how it complements DNA sequencing.
• Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss.
• Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care.
• Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq.
• Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant?
• Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time.
• When Results Are Inconclusive: How to handle unexpected or unclear RNA findings.
• Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice.
• Implementation Barriers: Challenges to scaling multi-omic testing in routine labs.
• Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade.

• Learn more about Baylor Genetics here
• Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases
• AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
• Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays
• Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”
• Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.
• Undiagnosed Disease Network

Relevant DNA Today Podcast Episode:

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections

Connect With Us: 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades.

Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries.

• How rare disease care in Brazil compares to the U.S.
• Why whole genome sequencing is a game changer for undiagnosed patients
• Lessons learned from national-scale genomics initiatives
• The role of public–private partnerships in sustaining innovation
• What the future holds for rare disease diagnostics worldwide

• MGI Tech
• MGI’s Sequencing Platforms 
• NeoGenomica
• NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses.
• 100,000 Genomes Project by Genomics England
• Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582
• Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637.

#285 AI To Enhance Variant Curation with Daniel Uribe

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI 

#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only.

To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link!  Don’t miss all the episodes this season! 

In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster? 

Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only.

Episode Discussion Topics:

• The importance of clear definitions: functional vs. complete cures
• Why developing universal medical cures is incredibly complex 
• The role of clinical trials in developing potential medical cures
• How AbbVie’s Pathway to Cures program fosters collaboration and innovation
• The transformative impact of precision medicine and reverse translation
• How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies
• The emotional and practical significance of potential medical cures for patients and scientists

Relevant Resources: 

• Listen to The Persistence Lab
• AbbVie: Pathway to Cures
• AbbVie: Can We Find Cures Faster Article
• AbbVie: AI & Data Convergence

Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!  

In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever. 

Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms.

This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined.

Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations.

The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world.

Topics Discussed In This Episode:

• An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species
• Exploration of natural selection and Darwin’s enduring influence on modern biology
• How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories
• The role of horizontal gene transfer in microbial evolution and its significance
• Highlights from Connecticut’s 2026 Darwin Day celebration
• Charles Darwin’s “entangled bank” and its relevance today
• What Darwin got right—and what modern science has updated
• Natural selection at the gene level vs. organism level
• Why evolution isn’t always gradual: rapid change and hybridization
• Horizontal vs. vertical gene transfer explained
• How viruses, bacteria, and other mechanisms move genes across species
• The role of horizontal gene transfer in microbial evolution
• Real-world implications for medicine, antibiotic resistance, and biotechnology
• How curiosity and early inspiration shape scientific careers
• The importance of science communication and public engagement

About Our Guest: Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering.

About the Event: This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. 

Relevant Resources: 

• Gogarten Lab at The University of Connecticut
• Dr. Johann Peter Gogarten’s LinkedIn Page
• “Charles Darwin: History’s Most Famous Biologist” via Natural History Museum 
• International Darwin Day Foundation 
• The Connecticut Darwin Day website
• Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut
• HFFC’s Podcast, Humanism Today

Relevant DNA Today Podcast Episode:

• #100 Carl Zimmer on Human Heredity 
• #134 Dr. Kat Arney on Cancer Evolution
• #335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution

Gene Pool Media: The Science Podcast Network:

DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

• Humanism Today RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• Parálisis Cerebral Respuestas
• Gods and Genes
• Rare Rebels

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change.

The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work. 

In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives. 

In This Episode: 

• Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I
• Being told “nothing can be done” and choosing to challenge that narrative
• Navigating rare disease advocacy before the internet, social media, or established drug development pathways
• Teaching himself medical and scientific concepts without formal training
• Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach
• Building a nonprofit organization from the ground up to support research and families
• The fragmented healthcare and research system rare disease families faced in the 1990s
• The critical role of relationships in advancing rare disease research
• Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress
• Bridging families, clinicians, and researchers to accelerate treatment development
• The path to developing the first treatment for MPS I
• How one family’s advocacy changed outcomes for future patients
• Parents as drivers of innovation in rare disease
• Persistence, collaboration, and problem-solving in the absence of clear systems
• Enduring lessons for today’s rare disease community and advocates

Gene Pool Media: The Science Podcast Network:

Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

• RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• Parálisis Cerebral Respuestas
• Humanism Today
• Gods and Genes

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

Relevant Resources: 

Rare Rebels Website

Rare Rebels on Spotify

Rare Rebels on Apple Podcasts 

MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page

Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page

Gene Reviews’ Mucopolysaccharidosis Type I Page

Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I

The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)

National Organization For Rare Disorders (NORD)

EveryLife Foundation For Rare Diseases

Relevant DNA Today Podcast Episode:

#171 Farber Disease with Aceragen (also a lysosomal storage disorder) 

#292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research)

#372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder) 

#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation.

Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use.

Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality.

• How IPATIMUP fits into Europe’s oncology landscape
• Why a research-driven approach is central to its diagnostic mission

• Translating research findings into clinical workflows
• Balancing innovation with responsibility in patient-facing diagnostics

• Why IPATIMUP selected MGI sequencing platforms
• What differentiates MGI’s technology in oncology applications
• The importance of flexibility across DNA and RNA testing
• Why long-term technical collaboration matters beyond installation

• How Gene+ selected the 1,021 genes included in its oncology panel
• Real-world experience using large DNA and RNA panels in routine diagnostics
• Why the Gene+ panel pairs effectively with MGI’s sequencing platforms
• What it takes to move from validation to clinical implementation

• How RNA sequencing complements DNA-based testing in oncology
• When RNA sequencing provides the most clinical value
• How RNA data can increase diagnostic confidence in complex cases

• Why automation is essential for high-throughput oncology labs
• Reducing hands-on time and minimizing human error
• Practical advice for labs looking to scale while maintaining consistency and quality

• IPATIMUP
• MGI Tech
• MGI’s Sequencing Platforms 
• Gene+ (Website currently under construction)

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it).

January 30th, 2026 Update:

Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government. The next step for the bill is to go back the U.S. House of Representatives for final passage. Urge your representatives to pass this legislation, MDA made it easy to do so here. 

January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th. 

Urge your senators to pass this legislation, MDA made it easy to do so here. 

Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you! 

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What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment. 

We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University.

We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it. 

What’s Actually Happening With NIH Funding

• Why the phrase “NIH cuts” understates the real-world impact on patients and families
• What proposed reductions for Fiscal Year 2026 could mean for rare disease research
• How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials

Why Rare Disease Research Is Especially at Risk

• Why rare disease programs are more sensitive to funding instability than common conditions
• The difference between slowed progress and permanent loss for progressive neuromuscular diseases
• How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials
• What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge

Neuromuscular Disease Research in 2026

• Where neuromuscular research stands today and what breakthroughs are closest to patients
• Which types of studies are most vulnerable to funding cuts
• How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases

Policy Realities & Misconceptions

• How to explain to policymakers that cutting research now increases long-term healthcare costs later
• Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart”

Advocacy: What You Can Do Right Now

• The most effective actions for advocates engaging Capitol Hill today
• What makes a patient or family story resonate with lawmakers and staffers
• How collective advocacy protects not just future discoveries, but lives happening right now

Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026.  

• MDA Advocacy Landing Page
• MDA Advocacy Action Center
• Donate to MDA
• MDA's X Page
• MDA's Instagram Page
• Request MDA Services 
• We Work For Health 

• #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
• #327 How Patient Advocacy is Changing Rare Disease Research
• #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (including NIH changes with former NHGRI Director Dr. Eric Green)

Usually we release new episodes on Friday, but since this was so timely we released it as a bonus episode. You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life.

Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next.

We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care.

Aging in Place & Memory Care

• What families are most concerned about when trying to keep a loved one at home
• How memory-related illnesses change caregiving compared to physical limitations alone
• Common misconceptions about the progression of cognitive decline
• What “successful aging in place” realistically looks like

Medication Challenges in Older Adults

• Why polypharmacy is so common—and so risky—in later life
• How medications that once worked well can become problematic over time
• Real-world examples of unexpected medication reactions in individuals with memory changes
• Why older adults are especially vulnerable to side effects, particularly with cognitive impairment

Pharmacogenomics, Explained for Caregivers

• What pharmacogenomics (PGX) is and how to explain it to families in practical terms
• Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated
• How PGX may help prevent medication-related crises before they happen

PGX in Home-Based Memory Care

• How pharmacogenomics could reshape medication decisions for dementia care
• Medication categories that often raise red flags in older adults
• How genetic insights may help protect individuals who can’t clearly report side effects

Advocacy, Access & System Gaps

• Barriers families face when trying to access PGX-informed care
• How caregivers can request medication reviews without feeling confrontational
• Where healthcare systems often fall short of the realities families manage at home

Looking Ahead

• What it would mean to routinely integrate pharmacogenomics into elder care
• Michele’s key message for caregivers navigating medications, memory care, and aging in place

Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life. Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true.

She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching.

Relevant Resources: Need Health? 

UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds ClinPGx

Sequence2Script

The PREPARE Study

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

Relevant Papers:

Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585.

van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271.

Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616.

Relevant DNA Today Podcast Episode:

#108 Dr. Becky Winslow on Pharmacogenomics

#174 Pharmacogenomics with Fulgent Genetics

#229 Pharmacogenomics with Avni Santani

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) 

#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (Talked about PGx with chemotherapy) 

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families.

We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals. 

Topics Covered in This Episode

• What Fabry disease is and how it affects the body.
• The impact of Fabry’s X-linked inheritance on clinical presentation.
• Why the term “just a carrier” is misleading for females or people with two X chromosomes.
• Variability in disease expression among females and key clinical cases.
• Classic vs. later-onset Fabry phenotypes and diagnostic challenges.
• Common signs and symptoms that often go unrecognized.
• Barriers leading to delayed diagnosis and under-recognition.
• Benefits of early detection and cascade family screening.
• Managing variants of uncertain significance (VUS) in the GLA gene.
• Limits of genotype–phenotype correlations in Fabry disease.
• Psychosocial challenges for families living with a Fabry diagnosis.
• Advice for clinicians and genetic counselors evaluating potential Fabry patients.

Resources & Links

• The brand new website, FindingFabry.com has additional information and resources. 
• Amicus’ website here also has information about Fabry disease. 
• Patients’ stories about living with Fabry disease. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine.

We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact:

Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics.

Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified.

• The stories behind scientific breakthroughs and what fuels discovery
• How collaboration across disciplines accelerates innovation
• Translating genetic discoveries into real-world therapies
• The role of publishing and open science in driving progress
• How journals are adapting to promote transparency and reproducibility
• Advice for early-career researchers balancing ambition with sustainability
• The evolving landscape of global collaboration in science
• How AI and automation are transforming both research and publishing
• The ethics and equity considerations of AI-driven science
• The importance of representation and global voices in genomics

• True innovation thrives on collaboration—across labs, disciplines, and continents.
• Publishing isn’t the end of science; it’s a catalyst for connection and progress. Bridging basic discovery to clinical application requires persistence and shared purpose.
• Transparency, communication, and mentorship are essential to the next wave of breakthroughs.

Relevant Resources: 

• Wiley Advanced Portfolio 
• Wiley’s Journal Finder
• Genetics and Genomics: Advanced Science Collection 
• Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections
• Wiley's AI guidelines for Authors
• Wiley’s ExplanAItions 2025: The evolution of AI in research
• What Makes a Successful Submission Wiley Blog Post
• Eligibility for access to Research4Life 
• Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences
• Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

Relevant DNA Today Podcast Episode:

#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) 

Connect With Us: 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine. 

Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution.

On This Episode, We Discuss:

Setting the Stage: Rome’s Personal Journey

• How Rome entered the genetics and diagnostics space shortly after the Human Genome Project
• What motivates his continued work at the intersection of innovation, patients, and access
• Why confidence, curiosity, and communication matter in fast-changing scientific fields

The Early Era: Post–Human Genome Project

• What diagnostics felt like in the early 2000s
• Early pharmacogenomics and predicting chemotherapy response
• Barriers to adoption, including cost, infrastructure, and skepticism

The Growth Era: Expansion of Genetic Testing

• How cancer diagnostics and precision medicine began shaping standard care
• Shifts in how clinicians and patients talked about risk and prevention
• Lessons learned about equity, access, and unmet expectations

The Current Era: Precision Medicine Goes Mainstream

• What distinguishes today’s genetic testing landscape from earlier eras
• Ongoing challenges around affordability, access, and education
• The role of podcasts and science communication in empowering patients

Looking Ahead: The Next Era of Genetic Testing

• What might define the next wave: RNA, epigenomics, microbiome, multi-omics
• Where AI and advanced data analytics fit into future care models
• Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential
• Whether population-wide genetic testing could become routine in the years ahead

Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured.

Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare.

Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries.

Relevant Resources: 

• Genetics for Healthcare Podcast Hosted by Rome Madison 
• American Lung Association; EGFR and Lung Cancer 
• Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research
• Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale
• The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm
• National Comprehensive Cancer Network Guidelines 
• The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!)

Relevant DNA Today Podcast Episode:

• #145 Greenwood Genetic Center on Epigenetics
• #182 Eric Green on the Complete Human Genome Project 
• #358 AGBT Precision Health 2025 Meeting Recaps and Reflections
• #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice
• #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
• #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
• #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today.  

Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. 

Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. 

Case Details:

The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing.

Patient Name: Liam Ventura 

Parent Names: Mary and Sam Ventura

Medical History:

• Pregnancy:
  • Uncomplicated
  • Full term (39 wks) via NSVD
  • No exposures or complications reported
  • Normal prenatal ultrasounds
• Newborn Screening:
  • Elevated immunoreactive trypsinogen (IRT)
  • Two CFTR variants identified on screening panel
• Development: Appropriate for age
• Growth: Slightly below weight percentile
• Symptoms: Mild cough, parents believe it’s due to the change of weather
• Specialists Seen: Pediatrician only so far
• Medications/Treatments: None currently
• Therapies: None currently

Family History:

• Ancestry: Dad- Irish  Mom- Af. American
• No consanguinity, birth defects, or known genetic conditions
• No history of cystic fibrosis or early infant deaths
• One paternal cousin with male infertility

Prior Carrier Results: 

• Dad- F508del Carrier 
• Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T 

Pediatric Mock Session Outline

Contracting

• Greetings and introductions
• Reason for referral to genetic counseling (positive newborn screening for CF)
• Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” 

• Address patient questions or concerns such as:
  • “What does this mean for our baby?”
  • “Does this mean he has cystic fibrosis?”
  • “Could this happen again in another pregnancy?”
  • “Did we do something to cause this?”

Medical Intake

• Review pregnancy and delivery history
• Review newborn history
• Review of systems with focus on:
  • Respiratory symptoms
  • Digestive symptoms and growth patterns
  • Frequency of infections
• Developmental milestones and any delays noted by parents
• Medications, supplements, or current therapies

Family History

• Construct a three-generation pedigree
• Ask about consanguinity, early childhood deaths, chronic respiratory or digestive issues, and male infertility
• Determine if any relatives have known carrier status for CF or other genetic conditions

Patient Education:

Overview of Genetics

• Explanation of autosomal recessive inheritance
• Each parent is likely a carrier of one CFTR gene variant
• With each pregnancy:
  • 25% chance for a child with CF
  • 50% chance to be a carrier
  • 25% chance to be unaffected and not a carrier

Cystic Fibrosis Overview

• Genetic condition that can affect the lungs and digestive system
• Caused by variants in the CFTR gene that affect how mucus and other secretions function
• Range of possible symptoms from mild to more significant depending on variants involved (explain variable expressivity)

Genetic Testing Discussion

• Both parents previously had carrier testing done, dad came back with a variant and mom did not. 
• Testing options: 
  • CFTR gene sequencing and deletion/duplication analysis for mom: c.1675G>A p.A559T variant is found afterwards
• Sample collection: Blood or saliva
• Results:
  • Positive: Confirms CF diagnosis 

Testing Process

• Turnaround time: 2–4 weeks
• Informed consent and shared decision-making

Recommendations and Next Steps

• Proceed with diagnostic testing for Liam
• Offer CFTR gene sequencing to parents
• Coordinate follow-up once results are available, will call once results are available
• Provide educational resources on CF and genetic testing
• Discuss implications for future pregnancies

#147 CF Series: Bijal Trivedi on "Breath From Salt"

#148 CF Series: Shuling Guo on Pharmaceuticals

#149 CF Series: Boomer Esiason’s Son Gunnar on Patient Advocacy

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Episode #351: Cardio Session for Sudden Death of A Family Member 

Episode #368: Prenatal Session for Increased Nuchal Transluency 

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time.

Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition.

Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury.

This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope.

On This Episode, We Discuss:

• Understanding Hunter Syndrome (MPS II)
  • What it means to have a metabolic disorder and how MPS II affects the body
  • Common symptoms and how the disease progresses over time
  • The variability in presentation and severity among individuals
• A Family’s Journey Through Hunter Syndrome
  • Kristin’s experiences growing up with a brother affected by Hunter syndrome
  • Losing Zachary and later receiving the diagnosis for her son, Charlie
  • How these experiences shaped her perspective as both a parent and an advocate
• Project Alive: Mission, Growth & Impact
  • The origins and mission of Project Alive
  • Key initiatives supporting research, families, and advocacy
  • How the organization balances funding science, supporting families, and influencing policy
• Gene Therapy & the RGX-121 Delay
  • Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome
  • What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families
  • The emotional and practical impact of regulatory delays in ultra-rare diseases
  • What changes could help expedite review processes for rare disease therapies
• Advocacy, Equity & Access
  • How Project Alive amplifies the voices of a small but urgent patient community
  • Strategies for engaging policymakers and industry partners
  • Lessons the broader rare disease field can learn from this advocacy model
• Looking Ahead & How You Can Help
  • What listeners can do to support Project Alive
  • Opportunities for advocacy, awareness-building, and community engagement

Relevant Resources: 

• Project Alive
• MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page
• The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)
• Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision
• FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy
• JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial
• A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
• FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles
• Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692.
• The Precision Medicine Initiative launched by President Obama 
• It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future) 
• National Organization For Rare Disorders (NORD)
• EveryLife Foundation For Rare Diseases
• STAT News: 1 in 10 Americans have a rare disease, but few have treatments
• Cystic Fibrosis Foundation’s Venture Philanthropy Model
• Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673
• Denali Therapeutics Drug Pipelines (including MPSII) 
• Researchers estimated that 42% of Americans over age 55 will eventually develop dementia. 
• NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria

Relevant DNA Today Podcast Episode:

• #147 CF Series: Bijal Trivedi on "Breath From Salt"
• #149 CF Series: Gunnar Esiason on Patient Advocacy
• #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
• #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
• #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19
• #327 How Patient Advocacy is Changing Rare Disease Research
• #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
• #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
• #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine
• #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized.

• Parenting a Child with Cockayne Syndrome:
  • Lack of carrier screening during IVF.
  • Genetic aspects and impact on DNA repair.
  • Different types of Cockayne Syndrome and their symptoms.
• Tailored Care for Ronan:
  • Importance of specific growth charts and dietary considerations.
  • Role of a supportive community and foundation efforts.
• Overlap with Other Disorders:
  • Similarities with other DNA repair disorders.
  • Importance of awareness and advocacy.
• Support and Encouragement:
  • Message to families and caregivers about community support.
  • Emphasis on shared experiences and advocacy.

Relevant Resources: 

• Cockayne Syndrome Foundation
  • TikTok: @HopeForCS
  • Instagram: @HopeForCS
  • Facebook 
• Cockayne Syndrome Page on MedlinePlus 
• Trichothiodystrophy (TTD) on MedlinePlus  
• Cockayne Syndrome: A Manual for Healthcare Providers
• Cockayne Syndrome: A Manual for Parents and Caregivers
• Growth Chart: Cockayne Syndrome Type 1 and Type 2
• The National Initiative for Cockayne Syndrome (NICS) 
• Amy and Friends
• MRI Lego Set 
• Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum)
• Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.

Relevant DNA Today Podcast Episode:

#39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum)

#327 How Patient Advocacy is Changing Rare Disease Research

#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. 

Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. 

In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. 

• Gene Therapy 
  • CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe
  • Utility of a high-activity variant in gene therapy for hemophilia B 
  • Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema
  • Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy
• Sequencing
  • Long-range genome sequencing enhances rare disease variant detection
  • Long-read genome sequencing identifies diagnostic variants 
  • Exome sequencing in critical illness is useful in adults as well as children 
• Other
  • Utility of pharmacogenomics in chemotherapy for GI cancers 
  • Polygenic risk score disclosure reduces adverse cardiovascular events 
  • Preimplantation genetic testing reduces risk of mtDNA diseases 

The Guests: 

Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine.

Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research.

Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics.

Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009.

Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project.

Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020).

With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. 

Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981 and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. 

While directing an independent research program for just over two decades, Dr. Green was at the forefront of efforts to map, sequence and understand mammalian genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function and evolution. His laboratory also pursued human genetics studies and identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease and peripheral neuropathy. Dr. Green has received countless awards, most recently the 2025 ASHG Leadership Award where he received a much deserved standing ovation. 

Quick Fact Check: 

Kira estimated there were 30 or 40 genes in the mitochondria, she was in the ballpark, there are 37 genes. 

Additional Papers Referenced: 

(In order of appearance) 

Hobbs HH, Cohen JC, Horton JD. PCSK9: From Nature's Loss to Patient's Gain. Circulation. 2024 Jan 16;149(3):171-173. doi: 10.1161/CIRCULATIONAHA.123.064498. Epub 2024 Jan 16. PMID: 38227713; PMCID: PMC10874118.

Musunuru K, Urnov F. Moving Therapeutic Genome Editing into Global Clinical Trials and Medicine. CRISPR J. 2025 Aug;8(4):228-231. doi: 10.1089/crispr.2025.0049. Epub 2025 May 22. PMID: 40397097.

Gurevitz C, Bajaj A, Khera AV, Do R, Schunkert H, Musunuru K, Rosenson RS. Gene therapy and genome editing for lipoprotein disorders. Eur Heart J. 2025 Sep 15;46(35):3420-3433. doi: 10.1093/eurheartj/ehaf411. PMID: 40600248; PMCID: PMC12448413.

Logsdon, G.A., Ebert, P., Audano, P.A. et al. Complex genetic variation in nearly complete human genomes. Nature 644, 430–441 (2025). https://doi.org/10.1038/s41586-025-09140-6

Visscher, P.M., Gyngell, C., Yengo, L. et al. Heritable polygenic editing: the next frontier in genomic medicine?. Nature 637, 637–645 (2025). https://doi.org/10.1038/s41586-024-08300-4

Lapinska S, Pimplaskar A, Shi Z, Ding Y, Frydman-Gani C, Hou K, Venkateswaran V, Boulier K, Olde Loohuis LM, Pasaniuc B. Exploring depression treatment response by using polygenic risk scoring across diverse populations. Am J Hum Genet. 2025 Aug 7;112(8):1877-1891. doi: 10.1016/j.ajhg.2025.06.003. Epub 2025 Jun 27. PMID: 40580956; PMCID: PMC12362525.

Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Kailyn Anderson, Megan Sikes, Lukas Kruidenier, Heidi I.S. Gildersleeve, Abbey Scott, Kati J. Buckingham, Kirsty McWalter, Paul Kruszka, Alexandra C. Keefe, Jessica X. Chong, David L. Veenstra, Katrina M. Dipple, Tara Wenger, Dan Doherty, Michael J. Bamshad,

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis, Human Genetics and Genomics Advances, Volume 6, Issue 4, 2025, 100464, ISSN 2666-2477,https://doi.org/10.1016/j.xhgg.2025.100464.

Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 9;6(4):100464. doi: 10.1016/j.xhgg.2025.100464. Epub 2025 Jun 3. PMID: 40468597; PMCID: PMC12357158.

Relevant Resources:

• “World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia” via CHOP
• “Is NIH cutting corners as it rushes to fill leadership positions?” via Science Insider  
• “The U.S. Is Funding Fewer Grants in Every Area of Science Medicine” via The New York Times
• American Society of Human Genetics Past President List
• Six Things to Know About ASHG’s Advocacy Work in 2025
• Six Ways to be an ASHG Advocate
• “On the Hill and Working for You: Our Advocacy in Action” ASHG Webinar
• Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions via Broad Institute 
• Human Pangenome Project 
• “Stanford scientist (Dr. Euan Ashley) who broke genome sequencing record on what faster diagnoses mean for patients” (2023) via STAT News
• Broad Clinical Labs sets new GUINNESS WORLD RECORDS™ title for fastest DNA sequencing technique
• “All babies in England to get DNA test to assess risk of diseases within 10 years” via The Guardian 
• “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes about the Sunshine Genetics Act 
• Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS)
• First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award
• Being an accidental pioneer in precision medicine | Matt Might | TEDxBirmingham

Relevant DNA Today Podcast Episode:

#110 Gattaca, 22 Years Later

#117 Dr. Janina Jeff on African Genomes

#150 Euan Ashley and Stephen Quake on The Genome Odyssey

#182 Eric Green on the Complete Human Genome Project

#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium

#214 Genetics Wrapped 2022 (with Dr. Eric Green)

#216 African American Ancestry with Nicka Smith

#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels

#260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green)

#266 Genetics Wrapped 2023 (with Drs. Eric Green and Brendan Lee)

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

#318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Drs. Bruce Gelb and Eric Green)

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections (with Dr. Eric Green)

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding 

Connect with us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our library of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

• Kathy's Motivation and Background
  • Kathy's role as a program director and her journey in genetic counseling.
  • The importance of scholarships and funding for diverse backgrounds.
• Grant Funding and Impact
  • Details of the grants from the Warren Alpert Foundation.
  • The impact of these grants on genetic counseling education and diversity.
• Challenges in Genetic Counseling
  • Discussion on the barriers to funding and access in genetic counseling.
  • Kathy's personal experiences and commitment to overcoming these challenges.
• Mentorship and Networking
  • The role of mentorship and networking in Kathy's success.
  • Advice on starting with small grants and building a track record.
• Programs Supported by Grants
  • Overview of the Alliance for Genetic Counseling and Career Ladder Education Program.
  • Benefits provided to students, including tuition, health insurance, and stipends.
• Educational Opportunities and Continuing Education
  • The importance of continuing education for genetic counselors.
  • Details of the Advanced Research Training Certificate Program.
• Long-term Effects and Measuring Success
  • Metrics and outcomes of the grant programs.
  • Success stories and the impact on students' careers.
• Advice for Aspiring Grant Recipients 
  • Kathy's advice on grant writing and overcoming imposter syndrome.
  • The importance of perseverance and community support.
• Future of Genetic Counseling
  • Kathy's vision for the future of genetic counseling.
  • The need for continued education and support in the field.

Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field. 

Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care.

• Grant Superhero: Kathleen Valverde, PhD, LCGC
• Dr. Kathleen Valverde’s PubMed Articles
• Warren Alpert Foundation
• The Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC)
• Alliance for Genetic Counseling Fellowship 
• Audrey Heimler Special Projects Award (AHSPA)
• Jane Engelberg Memorial Fellowship (JEMF)
• The Basser Center for BRCA
• PhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell 

#25 Interview with Cancer Hereditary Experts (with Ellen Matloff) 

#91 Ellen Matloff on Direct-To-Consumer Genetic Testing

#136 Linda Robinson on the History of Genetic Counseling

#234 Genetic Counseling History: 1st NSGC Conference 

#235 Genetic Counseling History: ABGC Formation

#244 Genetic Counseling History: The 70s

#319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors

#361 The Economics of Genetic Counseling: Policy, Industry & Career Advice (with Ellen Matloff)

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our backlog of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today.  

Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College. 

Session Indication: 

The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor. 

• Contracting 
  • Brittany introduces herself as the genetic counselor and confirms the referral reason.
  • The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling.
• Explanation of Ultrasound Findings
  • Discussion of the nuchal translucency (NT) measurement and its implications.
  • Explanation of the potential genetic conditions associated with increased NT.
• Screening and Testing Options
  • Overview of non-invasive prenatal testing (NIPT) and its capabilities.
  • Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing.
• Family History and Genetic Concerns
  • Exploration of family history for genetic conditions or concerns.
  • Discussion of Factor V Leiden and its implications.
• Decision-Making and Next Steps
  • Discussion of the patient's feelings and decision-making process regarding testing.
  • Planning for screening tests and follow-up consultations.
• Conclusion
  • Recap of the session and reassurance provided to the patient.
  • Information on how to reach out with further questions and the plan for future appointments.

Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne

Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne

Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg

Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Episode #351: Cardio Session for Sudden Death of A Family Member 

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Amber shares her personal background growing up in a religiously mixed home (Christian/atheist), her journey through deconstruction and back to a post-deconstruction Christian identity, and why that lived experience drew her to study religion and spirituality in genetic counseling for her graduate capstone at Keck Graduate Institute (KGI). With training in genetic counseling and a background shaped by a religiously mixed upbringing, Amber brings a unique perspective on how to navigate questions of faith in medical settings.

Be sure to subscribe to Gods and Genes on your podcast app, here on Spotify and here on Apple Podcasts, so you don’t miss future episodes exploring belief, meaning, and medicine.

• Why this show, why now: The vision for Gods and Genes and the gap it fills in clinical education and patient care.
• Science + spirituality as complements: Curiosity, mystery, and how questions in science and faith can productively coexist.
• Amber’s path: Growing up with Christian and atheist parents, deconstruction, and how that shapes her clinical stance today.
• Inside the capstone study: What genetic counselors report hearing from patients about faith/spirituality, and how prepared they feel.
• Key finding: Providers’ perceived helpfulness in faith-related conversations did not differ by their own religiosity, spirituality, affiliation, or years of experience, suggesting this is a trainable skill.
• Practical language clinicians can use:
  • Validating statements (“It sounds like your faith is important in this decision…”)
  • Reflective summaries to check understanding
  • Thoughtful reframing that integrates beliefs with medical options (and knowing when to refer to chaplaincy)
• When beliefs and recommendations diverge: Staying non-directive, exploring assumptions, and correcting myths (e.g., privacy/HIPAA concerns).
• Partners in care: Why clergy (e.g., rabbis in Orthodox communities) are often medical advocates, not adversaries, and how to collaborate.
• Common misconceptions, both ways:
  • Among clinicians about “what clergy do” and whether to invite them in
  • Among faith communities about what genetic counselors do beyond prenatal care
• Invitations to the community: Amber seeks conversations with religious scholars, non-religion/unbelief researchers, chaplains, clinicians, and patients willing to share how belief (or non-belief) shaped their care.

Correction: Around 12 minutes and 30 seconds into the episode (varies depending if you are consuming the audio or video version), Amber shares that in every session religion/spirituality comes up, she meant to say every rotation she went through, not with every patient. 

• Patients raise spiritual or religious concerns more often than many trainees expect; be ready, not reactive.
• You don’t need to be religious to be helpful; skills can be learned (validation, reflection, collaboration).
• Not every visit needs a spiritual history, follow the patient’s lead.
• Chaplains, rabbis, clergy etc. can be allies who understand medical contexts and patient values.
• Thoughtful reframing (when appropriate) can align faith commitments with evidence-based options without being directive.

• Religion On the Mind podcast hosted by Dan Koch (Spotify, Apple, and Substack) 
• "Utterly Humbled by Mystery" by Father Richard Rohr
• Rob Bell on Spirituality and Mystery
• Richeimer N, Wilson K, Petrasek A, Weiner J. Emunas Chachamim (faith in the sages): A prenatal genetic counseling needs assessment of Orthodox Jewish clergy in Los Angeles. J Genet Couns. 2024 Oct;33(5):1045-1058. doi: 10.1002/jgc4.1816. Epub 2023 Oct 25. PMID: 37877233.
• Thompson AB, Cragun D, Sumerau JE, Cragun RT, De Gifis V, Trepanier A. "Be Prepared if I Bring It Up:" Patients' Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling. J Genet Couns. 2016 Oct;25(5):945-56. doi: 10.1007/s10897-015-9922-9. Epub 2016 Jan 13. PMID: 26758255. 

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

Gods and Genes is the newest show on science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

• RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• Parálisis Cerebral Respuestas

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

Would you like to be a guest on Gods and Genes? Email your pitch to Amber at contact@godsandgenes.com or godsandgenes@gmail.com. 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. The Graphic Designer of the new Gods and Genes logo is Safiah Peeran. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

This marks the 7th year in a row that DNA Today has produced an NSGC recap episode, and it continues to be our favorite conference of the year (shhh don’t tell the others). 

Our host Kira Dineen, MS, LCGC, CG(ASCP)CM, spent the week attending sessions, reconnecting with past guests and sponsors, and meeting so many listeners in person (thank you to everyone who stopped to say hello!).

In this episode we conduct a few in-person lightning interviews featuring attendees of the conference highlighting their favorite sessions and what they learned. Attendees featured include Grace Drew, Celine Belekdanian, Sofia Sheikh, Cristina Liriano Cepin, and Kim Ta. 

Kira Dineen was one of six panelists for the preconference workshop, “Think Big, Start Small: A Practical Guide to Entrepreneurship”. After it wrapped she caught up with Kate Wilson to reflect on entrepreneurship as a career path for genetic counselors. Kate Wilson was the session coordinator and moderator. Kate’s two podcasts All Access DNA and DNA Dialogues are housed under our science podcast network, Gene Pool Media. 

Relevant Resources: 

NSGC Professional Status Survey (PSS)

DNA Dialogues, Journal of Genetic Counseling’s Podcast

All Access DNA

Gene Pool Media: The Science Podcast Network

Relevant DNA Today Podcast Episode:

#232 Entrepreneurship in Genetics with Matt Tschirgi

#302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care

#307 NSGC 2024 Recap

Curious about other NSGC conferences? We have recapped the last seven years of conferences including 2019, 2020, 2021, 2022, 2023, and 2024. 

Don't forget to mark your calendars! The 45th NSGC Annual Conference is happening next year in Baltimore, MD from November 10-14, 2025. We are already excited to eat lots of crab cakes with fellow genetic counselors. 

What’s next on our conference schedule? We will be in New Hampshire for NERGG December 4th and 5th. Our host Kira Dineen will be presenting about how to utilize social and digital media in advocacy efforts. Check out the agenda here and register here, and if you are a student you get 50% off!

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

While at the festival our host/producer Kira Dineen accepted the Backstage Best Actor Award (Female) on Devin Sidell’s behalf. You may remember her from Episode #360 where we talked with her about her film “Love, Danielle” which is the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation. 

The Guest: 

Dr. Larry Corey is the former president and director of Fred Hutch Cancer Center. His research focuses on herpes viruses, HIV, the novel coronavirus and other viral infections, including those associated with cancer. For 25 years Dr. Corey has led the HIV Vaccine Trials Network (HVTN), the largest international research network focused on developing a safe and effective vaccine against HIV. In 2020 he was selected by Dr. Anthony Fauci to lead the CoVID Prevention Network to run the clinical trials for COVID-19 under Operation Warpspeed. The scientific work on HIV made it possible to achieve a COVID vaccine in record time. In turn, COVID vaccines gave us mRNA technologies and the ability to speed up vaccine development and save more lives. 

“Ending HIV: The Journey to a Vaccine” Documentary: 

This powerful and timely documentary masterfully chronicles one of the most significant scientific pursuits of our era, spanning decades of research and resilience.

Since the early 1980s, scientists, researchers, community organizers, faith leaders, and countless organizations have poured their lives into understanding and battling HIV — the most complicated virus medicine has ever faced.

When the HIV Vaccine Trials Network (HVTN) was formed in the 1990s, an unprecedented global collaboration took shape. But until now, the tireless work across countries, races, genders, and disciplines had never been fully narrated on screen.

In this in-person conversation, Dr. Larry Corey discusses his extensive experience in vaccine development, particularly focusing on the challenges of creating an HIV vaccine compared to COVID-19. He highlights the genetic diversity of HIV, the evolution of vaccine strategies, and the importance of community engagement in research. Dr. Corey also emphasizes the impact of HIV research on broader scientific fields and addresses the ongoing issue of vaccine skepticism in public health.

• HIV's genetic diversity complicates vaccine development significantly.
• Understanding immune evasion strategies is crucial for creating effective vaccines.
• The evolution of vaccine strategies has shifted focus from T cells to B cells.
• Infrastructure built for HIV research facilitated rapid COVID-19 vaccine development.
• Community engagement is essential for successful vaccine trials and public trust.
• HIV research has led to advancements in other areas of medicine and science.
• Continued funding for HIV research is critical for future breakthroughs.
• Vaccine skepticism poses a significant challenge to public health initiatives.
• Engaging with communities can help combat misinformation about vaccines.
• An HIV vaccine may be achievable within the next few years.

Relevant Resources: 

• Watch the full documentary “Ending HIV: Journey to a Vaccine” on their website here
• Learn about the HIV Vaccine Trial Network here
• Learn more about the science behind HIV research here
• See the road of the HIV milestones here
• Find out if there's a study clinic near you here, their studies are conducted at over 40 research sites across the United States
• Find out more about volunteering for a study here
• Access information about The Fred Hutch Cancer Center here
• Check out the Raw Science Film Festival here
• Brand new paper published on October 25th (the day we recorded) that Dr. Corey referenced.
  • Youyi Fong, Yunda Huang, Ying Huang, Wayne Woo, Alice McGarry, Germán Áñez, Lisa M Dunkle, Iksung Cho, Christopher R Houchens, Karen Martins, Lakshmi Jayashankar, Flora Castellino, Christos J Petropoulos, Andrew Leith, Deanne Haugaard, William Webb, Yiwen Lu, Chenchen Yu, Lindsay N Carpp, April K Randhawa, Michele P Andrasik, James G Kublin, Julia Hutter, Maryam Keshtkar-Jahromi, Tatiana H Beresnev, Carina A Rodriguez, Milagritos Tapia, Christine B Turley, Carmen D Zorrilla, Stuart H Cohen, Susan E Kline, Elizabeth Barranco, Lawrence Corey, Kathleen M Neuzil, Dean Follmann, Julie A Ake, Cynthia L Gay, Karen L Kotloff, Thomas Jones, Richard A Koup, Ruben O Donis, Peter B Gilbert, on behalf of the Immune Assays Team, the Coronavirus Vaccine Prevention Network (CoVPN)/2019nCoV-301 Principal Investigators and Study Team, and the United States Government (USG)/CoVPN Biostatistics Team, Analysis of Antibody Markers as Immune Correlates of Risk of Severe COVID-19 in the PREVENT-19 Efficacy Trial of the NVX-CoV2373 Recombinant Protein Vaccine, Clinical Infectious Diseases, 2025;, ciaf558, https://doi.org/10.1093/cid/ciaf558 

Relevant DNA Today Podcast Episode:

#67 Daniel DeFabio on Disorder: The Rare Disease Film Festival

#110 Gattaca, 22 Years Later

#151: Richard Michelmore and Brad Pollock on COVID-19 Variants

#154 Kenneth Kovan & David Berd on Haptenized Vaccines

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

#328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases

#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding 

We will see many of you next week in Seattle for the National Society of Genetic Counselors (NSGC) annual conference. If you are attending and want to be featured on the show, meet us at the end of “Passport to Prizes” where we will record quick sound bites on what you learned at the conference to be included in our NSGC recap episode. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 360 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

We’re joined by two expert guests:

Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where she leads oncology-related projects and develops new research initiatives. With a PhD in Genetics and Molecular Biology, her career has spanned bioinformatics, breast cancer research, and now applying cutting-edge sequencing to expand access to hereditary cancer testing in Italy.

Dr. Javier Batista Perez is a DCS Specialist at MGI Tech. For those that don’t know, DCS stands for "DNA Sequencing", "Cell Omics", and "Spatial Omics". With expertise across biophysics, bioinformatics, and therapeutic design, Dr. Perez brings deep knowledge of how MGI’s sequencing technologies are being applied across Europe and how they’re shaping the future of precision medicine.

• How lifestyle, environment, and genetics contribute to cancer risk
• Why breast cancer genetic testing is a major public health priority in Italy
• The five-gene panel (BRCA1, BRCA2, CHEK2, PALB2, ATM) designed for hereditary breast and ovarian cancer, and why these genes were chosen
• How mutations (pathogenic variants) in these genes contribute to cancer risk
• Why Negedia partnered with MGI Tech and what makes the technology innovative
• Sequencing exons and select non-coding regions for more complete genetic risk analysis
• How variant databases have expanded, improving interpretation and curation The importance of cost-effectiveness in scaling genetic testing in national healthcare systems
• Unique barriers Italian patients face compared to the U.S. in accessing genetic testing The role of general practitioners vs. specialists in referrals for genetic testing in Italy
• Looking ahead:
  • Will Italy move toward population-wide BRCA screening?
  • Should more genes be added to future panels (TP53, RAD51C/D)?
  • How spatial transcriptomics and multi-omics may reshape hereditary cancer care
  • Biggest opportunities and challenges for scaling genetic testing globally

Negedia

MGI’s Sequencing Platforms 

Relevant DNA Today Podcast Episodes:

#25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst 

#165 Sequencing for Cancer Risk with Sandra Balladares

#159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings

#211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents

#309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship”

#311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

Fact Check: Kira was correct when she quoted 1 in 8 people assigned female at birth will develop breast cancer in their life, according to The National Breast Cancer Foundation Inc. 

Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this episode of DNA Today, host Kira Dineen takes you inside the conference experience, from lively poster sessions and thought-provoking sessions to spontaneous hallway conversations that sparked new ideas. You’ll hear from researchers pushing the boundaries of genomic medicine, genetic counselors reflecting on the future of the profession, and industry leaders unveiling the latest breakthroughs in sequencing and data interpretation.

The energy in Boston was electric, collaboration and networking were the keywords of the week, and optimism about the future of genetics filled every session. Whether you attended in person or are catching up from afar, this recap captures the highlights, trends, and takeaways that defined ASHG 2025.

Sessions Recapped & Conference Aspects Explored:

Ivy Bethea’s presentation, “Comparing the Diagnostic Capability of Large Language Models and Clinical Geneticists,” was discussed. She was the first genetic counseling trainee to deliver a plenary talk at the conference. Ivy Bethea is a recent graduate of the The Columbia University Program in Genetic Counseling. 

We also teamed up with Wiley Advanced Portfolio to co-host a breakfast where our host Kira Dineen moderated a panel exploring the publishing landscape in genetics. Highlights from this session were recapped and reflected upon. 

The expert that holds the record for most guest appearances on DNA Today is Dr. Eric Green, who received the prestigious and well deserved ASHG 2025 Leadership Award. We reflect on his acceptance speech filled with wisdom for genetic experts to be leaders. We recognized the absence of many of his colleagues at the NIH as they were not permitted to travel to the conference during the US government shutdown and the impact it had at the conference overall. We also discussed how funding has drastically changed from the NIH and how that is affecting genetic research in the US. 

Guests:

Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified.

Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics.

Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement, work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English.

Science Communication Resources:

• The Science Underground, for all your science communication consultation needs
• “Public Knowledge of and Attitudes Toward Genetics and Genetic Testing” in Genetic Testing and Molecular Biomarkers 
• Telomere-to-Telomere (T2T)
• NHGRI symposium confronts difficult pasts of eugenics and scientific racism
• NHGRI’s Human Genome Fact Sheet 
• NIH’s Tribal Health Research Office 

Publishing Resources: 

• Wiley Advanced Portfolio 
• Wiley’s Journal Finder
• Genetics and Genomics: Advanced Science Collection 
• Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections
• Wiley's AI guidelines for Authors
• What Makes a Successful Submission Wiley Blog Post
• Eligibility for access to Research4Life 
• Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences
• Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

Relevant DNA Today Podcast Episode:

#182 Eric Green on the Complete Human Genome Project 

#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere (T2T) Consortium

#214 Genetics Wrapped 2022

#260 PhenoTips: Population Genomics in Clinical Practice

#266 Genetics Wrapped 2023

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

#314 ASHG 2024 Recap

#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors 

#318 Genetics Wrapped 2024

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#361 The Economics of Genetic Counseling: Policy, Industry & Career Advice

Stay tuned for a future episode where Drs. Yuming Hu and Elizabeth Bhoj return to the show to share more insight into the science publishing world. 

Also we hope to see you in Seattle for the next national genetics conference, National Society of Genetic Counselors which kicks off on November 6th with pre-conference workshops including one with our host Kira Dineen, “Think Big, Start Small: A Practical Guide to Entrepreneurship”. 

Brush up on your French before next year’s ASHG conference, we are heading to Montréal, Canada in October 2026!

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 360 episodes? That’s right, we have enough episode for you to listen to one a day for a year, and still have more to go! Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Our guest is Dr. Nikhil Sahajpal, Assistant Director in the Cytogenetics and Molecular Laboratories at the Greenwood Genetic Center (GGC) in Greenwood, SC. He led the validation of OGM at GGC. 

He earned his PhD in Pharmaceutical Sciences in India before completing postdoctoral training at Augusta University in Augusta, Georgia, where he focused on advancing molecular and cytogenetic methodologies for prenatal, pediatric, and oncology applications. During his time there, he also played a key role in establishing FDA/EUA-approved diagnostic testing and research for COVID-19.

Dr. Sahajpal began his Laboratory Genetics & Genomics fellowship at GGC in the summer of 2022. During his fellowship, he trained extensively in the implementation and interpretation of molecular and cytogenetic diagnostic tests and led the development and validation of a novel clinical test, optical genome mapping.

Now as an Assistant Director, Dr. Sahajpal continues his innovative work while advancing GGC’s mission of providing state-of-the-art diagnostic tools along with compassionate care for patients and families affected by genetic disorders.

In this conversation, we explore:

• OGM basics – what it is, how it works, and why it matters
• Why Greenwood Genetic Center adopted OGM and Dr. Sahajpal’s role in leading the project
• How OGM compares to karyotyping, microarray, FISH, and NGS
• The resolution advantage of OGM and its impact on clinical care
• Early success stories where OGM provided answers missed by other methods
• Insights from GGC’s study on neural tube defects (NTDs), including the discovery of candidate genes (RMND5A, HNRNPC, FOXD4, and RBBP4)
• How OGM could help reduce the diagnostic odyssey for rare disease patients
• The future of OGM – will it replace traditional cytogenetic techniques or work alongside them?

Relevant Resources: 

• Greenwood Genetic Center’s Optical Genome Mapping – Complete and Targeted 
• Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect
• Sahajpal Completes Laboratory Fellowship at GGC and Joins Faculty
• Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824; PMCID: PMC10296552.

Relevant DNA Today Podcast Episode:

• #145 Greenwood Genetic Center on Epigenetics
• #279 Reflecting on 50 Years of Greenwood Genetic Center
• #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey (discusses dual diagnoses) 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Our host Kira Dineen resides in Connecticut and has been lucky enough to present every year. This time moderating a panel about the economics of genetic counseling, which is now shared as this podcast episode. 

This panel conversation explores the economics of genetic counseling, focusing on the current financial climate, the role of genetic counselors in healthcare, and the importance of adaptability and networking for career development. The discussion explores challenges faced by students and professionals in the field, the need for expanded roles, and the significance of engaging with industry and policy to secure the future of genetic counseling.

The Connecticut Genetic Counselors' Association (CTGCA) is a not-for-profit statewide genetic counselors' association with a mission to foster, support, and strengthen the community of genetic professionals, in the common pursuit of improving clinical genetics and genomics care, within the state of CT. If you are a genetic counselor who lives in Connecticut become a member for free here. 

The Jackson Laboratory for Genomic Medicine focuses on research in human genomics, complementing their long history of mammalian genetics expertise. JAX Genomic Medicine, which opened in 2014 next to the UConn Health campus, facilitates clinical collaboration with Connecticut’s many universities and hospitals. Kira Dineen also attended the grand opening back in 2014 and recapped it on all the way back on Episode #6 of DNA Today. 

Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.

Ellen has authored more than 50 scientific publications in the field; is an established educator, lecturer, and media spokesperson; and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. As genetic testing became more common and also more complex, she served as the senior author on several publications documenting national errors in the misinterpretation of genetic test results. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively.

Maria Gyure, MS, CGC currently serves as the Program Director for the University of Connecticut’s Genetic Counseling Professional Science Master’s Degree Program. Her passion for education in clinical genetics led her to design and lead two online graduate certificate programs for UConn. Her expertise in online learning has been recognized nationally and she continues to champion for the benefits of quality and accessible learning. An alumna, she attended UConn on a 4-year Academic Leadership Scholarship where earned a Bachelor of Science degree in Diagnostic Genetic Sciences and a minor in Molecular and Cell Biology. Maria subsequently matriculated into the Genetic Counseling Program at Virginia Commonwealth University in Richmond, VA, where she earned a Master’s of Science in Genetic Counseling and completed the VA Leadership Education in Neurodevelopmental Disabilities (Va-LEND) program. Maria served as a clinical genetic counselor and later combined genetic counseling with research and served as the research coordinator for multiple federally funded research grants on both family communication about cancer and interventions for young children at risk for emotional and behavioral disorders. Maria has several publications in her specialty in addition to invited presentations and service on graduate advisory committees. She maintains her clinical skills by counseling pediatric genetics patients at UConn Health and is a true voice for underserved populations.

Samantha Baxter, MS, CGC is the associate director, genetic and genomic data sharing, and a genetic counselor in the Program in Medical and Population Genetics Translational Genomics Group at the Broad Institute of MIT and Harvard. She is the operations manager and council member for gnomAD, she co-chairs the policy working group for the GREGoR Consortium, and she leads the TGG’s variant curation team. Baxter began her tenure at the Broad Institute in 2016 as a clinical project manager and genetic counselor. In 2018, she became a senior clinical genomics specialist and founded the Genetic Counselor Affinity Group. She also took an appointment as an adjunct associate professor at the MGH Institute of Health Professions in 2019. In 2020 she started her current position. She is an active member of the National Society of Genetic Counselors and has served on the board of directors. Prior to joining the Broad Institute, Baxter was director of VariantWire, a real-time genomic data-sharing network based on the GeneInsight platform that grew out of her previous work as an application specialist for the Partners Healthcare Business Development Team. In 2012 she was awarded the National Society of Genetic Counselors New Leader Award. Baxter obtained her M.S. in genetic counseling from the Boston University School of Medicine and holds a B.S. in behavioral neuroscience from Lehigh University. She is certified as a genetic counselor through the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts.

The Moderator

Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her), has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 10+ podcasts, many of which are in her science podcast network: Gene Pool Media. In 2012, she launched her flagship show, DNA Today, which dives into the world of genetics through interviews about genetic technology, disorders, and ethics. “DNA Today” has won the Best 2020-2022 Science and Medicine People’s Choice Podcast Award. The show has surpassed 350 episodes supported by over 80 sponsors. Kira received her Bachelor’s of Science in Diagnostic Genetics from the University of Connecticut and earned her certification as a Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. She is a licensed certified genetic counselor at a high risk prenatal private practice. 

She was accepted into The Podcast Academy and previously served on NSGC’s Digital Ambassador program. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics. She also serves on the Dean’s Advisory Committee at the University of Connecticut’s College of Agriculture, Health and Natural Resources. 

Takeaways

• The financial climate in genomics is challenging for genetic counselors.
• Genetic counselors need to advocate for their value in healthcare.
• Understanding the economics of genetic counseling is essential for strategic career planning.
• Students should be aware of the rising costs of education and its impact on their careers.
• Adaptability is a crucial skill for success in genetic counseling.
• Networking can open doors to new opportunities in the field.
• There is a growing need for genetic counselors in various industries beyond healthcare.
• Engaging with policy and industry can help secure the future of genetic counseling.
• Future roles for genetic counselors may include positions in venture capital and private equity.
• It's important to follow personal passions and interests in career development.

Relevant DNA Today Podcast Episodes

#211 Jorge Contreras on The Genome Defense (Gene Patent Supreme Court Case)

#91 Ellen Matloff on Direct-To-Consumer Genetic Testing

#69 Jackson Lab's Forum on Healthcare Innovation

#42 Women In Bioscience: Let There Be No Limit

#25 Interview with Cancer Hereditary Experts

#6 Jackson Laboratories for Genomic Medicine Opening

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this episode, we are joined by Devin Sidell, the film’s co-writer, producer, and lead actress, who brings her own BRCA1 journey to the screen, and Amy Byer Shainman, the BRCA Responder, a patient advocate and producer of the film. Together, we explore the science of BRCA mutations, the personal impact of hereditary cancer, and how storytelling can transform the way we understand genetics and health. 

Breast cancer awareness month starts next week which is perfect timing as for Love, Danielle will be released in North America on October 3, 2025! You can watch it on Apple TV, Amazon Prime, and many more digital platforms.

Devin Sidell 

A Los Angeles native, Devin Sidell graduated cum laude from Princeton University and then moved back to L.A. to pursue a career in film and television, appearing as Teen Lois on "Malcolm in the Middle" and recurring as Abigail Stevens on "The O.C." She won an L.A. Weekly Award for her performance in "Land of the Tigers" at Sacred Fools Theatre and was nominated for both LADCC and Ovation Awards for the musical "The Behavior of Broadus," co-produced by Center Theatre Group. Devin has appeared in shows at the Kirk Douglas Theatre as well as on The Broad Stage opposite Josh Gad and Bryce Dallas Howard.

In addition to appearances on "Ray Donovan" opposite Liev Schreiber, the viral singing criminals cold open on "Brooklyn Nine-Nine" (yes, that cold open!), "NCIS," Lena Waithe's "Twenties," and B.J. Novak's "The Premise," Devin appears in Rob Zombie's horror film "31" (Sundance Film Festival) and recurs as a sketch performer on "Jimmy Kimmel Live!" A carrier of the BRCA1 gene mutation with a family history of ovarian and breast cancers, Devin decided in 2017 to undergo both a preventative double mastectomy and a preventative hysterectomy/oophorectomy, earning her the label of "previvor." She is in post production on the dark comedy feature film "Love, Danielle" about her experience. She is a proud member of the Television Academy.

Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal. 

Amy Byer-Shainman 

Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. Her goal is to educate, entertain, and empower others through creative writing and film. Her medical memoir Resurrection Lily has won 14 literary awards and was a 2020 book club selection of the National Library of Medicine. She has also been an Executive Producer for multiple documentaries including The Two Dollar Bill Documentary and Pink & Blue: Colors of Hereditary Cancer. She is a producer on the feature film Love, Danielle.

Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal. 

• How Devin’s personal BRCA1 positive experience inspired Love, Danielle
• The role of advocacy and why Amy joined the project as a producer
• Breast, ovarian, prostate, and other cancer risks linked to BRCA1/2 mutations
• Emotional realities of risk-reducing surgery and family dynamics in hereditary cancer
• Fertility, family planning, and their intersection with BRCA decision-making
• Misconceptions about BRCA testing and hereditary cancer syndromes
• The power of storytelling in changing public understanding of genetics
• Community, support networks, and the importance of patient voices
• Reflections on the response from the BRCA and previvor community

• LoveDanielleFilm.com 
• Upcoming Film Screenings 
  • CALIFORNIA (Los Angeles) - Awareness Film Festival - Saturday, October 25th @ 7pm at Illusion Magic Lounge in Santa Monica.
  • MASSACHUSETTS (Boston) - American Society of Human Genetics Conference - Friday, October 17th @ 7pm at Alamo Drafthouse Cinema Boston Seaport
  • CONNECTICUT - Mystic Film Festival - Friday, October 3rd @ 2:30pm at United Theatre.  
• BRCAresponder.com
• DevinSidell.com
• FindAGeneticCounselor.com 
• Check out all the shows and films Devin Sidell has been an actress, writer and/or producer in via IMDb including Parks and Recreation, NCIS, Jane The Virgin, The Last Of Us Video Game, The OC, Ray Donovan, and so many more.
• Check out the documentaries Amy Byer-Shainman has produced via IMDb including Pink & Blue: Colors of Hereditary Cancer, The Two Dollar Bill Documentary, etc. 

• #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst 
• #165 Sequencing for Cancer Risk with Sandra Balladares
• #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings
• #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents
• #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship”
• #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

All rights reserved to Corine Solberg/Getty Images for the image used as the episode tile. 

Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the Midwest Regional Bone Dysplasia Clinic and the Neuromotor Development Clinic at UW Health Kids. With a long-standing research and clinical focus on achondroplasia, Dr. Legare is here to walk us through the condition’s genetic cause, clinical presentation, and the importance of a multidisciplinary care model. We also discuss non-invasive prenatal screening (NIPS), psychosocial support, and the community’s role through organizations like Little People of America.  

Key Takeaways: 

• Achondroplasia is caused by a gain-of-function variant in the FGFR3 gene, which causes impairment of endochondral bone growth.

• 80% of cases occur de novo in families without a history of skeletal dysplasia.

• Multisystem complications beyond bone growth require coordinated care.

• NIPS may detect achondroplasia earlier than ultrasound in some cases.

• Tailored growth charts and tools like QoLISSY support tracking and quality of life.

• Psychosocial and community support is crucial, especially early in life.

• Misconceptions remain and genetic counseling plays a key role in correcting them. 

Relevant Skeletal Dysplasia DNA Today Episodes: 

• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer 

• #301 Dwarfism with Colleen Gioffreda 

• #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders) 

Achondroplasia Resources: 

• Little People of America (LPA) 

• Dwarf Athletic Association of America (DAAA) 

• International Achondroplasia Forum 

• Achondroplasia GeneReviews 

• Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. 

• Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010  

Stay tuned... this episode is actually the first episode in a series about achondroplasia. In the next installment we will learn more about co-morbidities and multidisciplinary care. Then in the third episode will discuss currently available targeted therapy.  

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” 

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

This conference brings together leading genomics researchers, healthcare professionals, and healthcare industry stakeholders to usher in a new era of precision medicine. Precision Health remains at the forefront of cutting-edge technologies, real-world implementation, and groundbreaking research in genomic medicine. Since its launch in 2016, this meeting has showcased the most impactful discoveries and large-scale initiatives shaping the future of healthcare—from national genomics strategies and international biobank efforts to hospital-driven diagnostic innovation and reimbursement models. Building on AGBT’s legacy of spotlighting transformative technologies and fostering public-private collaboration, the Precision Health Meeting emphasizes advances in clinical diagnostics, therapeutic development, and our growing understanding of genotype-phenotype relationships.  

Some of the biggest names in genomics presented and we caught up with a few of them to capture their insights on the show to share with all of you.

The Guests

Dr. Eric Green is the former director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! 

Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics, where she leads their clinical strategy and ensures the highest standards in genetic testing for patients across all ages, especially children with rare, undiagnosed genetic disorders. She is also the Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. As a board-certified pediatrician and clinical geneticist, she has spent her career at the intersection of improving patient care, scientific innovation, and genomic medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Stay tuned for a future episode where we dive deeper about RNAseq and other multi-omic approaches with Dr. Eng. 

Marina Sirota is currently a Professor and the Acting Director at the Bakar Computational Health Sciences Institute at UCSF. Prior to that she has worked as a Senior Research Scientist at Pfizer where she focused on developing Precision Medicine strategies in drug discovery. She completed her PhD in Biomedical Informatics at Stanford University. Dr. Sirota’s research experience in translational bioinformatics spans nearly 20 years during which she has co-authored over 170 scientific publications. Her research interests lie in developing computational integrative methods and applying these approaches in the context of disease diagnostics and therapeutics with a special focus on women’s health. The Sirota laboratory is funded by NIA, NLM, NIAMS, Pfizer, March of Dimes and the Burroughs Wellcome Fund. As a young leader in the field, she has been awarded the AMIA Young Investigator Award in 2017. She leads the UCSF March of Dimes Prematurity Research Center at UCSF as well as co-directs ENACT, a center to study precision medicine for endometriosis. Dr. Sirota also is the founding director of the AI4ALL program at UCSF, with the goal of introducing high school girls to applications of AI and machine learning in biomedicine.

Resources:

The Advances in Genome Biology and Technology (AGBT) website

AGBT Precision Health Conference website 

Baylor Genetics website

Baylor Genetics to Showcase RNA Sequencing Breakthroughs for Rare Disease Diagnosis at 2025 AGBT Precision Health Meeting

The Bakar Computational Health Sciences Institute at UCSF

Li, Y., et al. (2025). Cell-type-directed network-correcting combination therapy for Alzheimer’s disease. Cell. Advance online publication. https://doi.org/10.1016/j.cell.2025.06.035

Relevant DNA Today Episodes:

#19 Obama’s Precision Medicine Initiative

#29 Precision Medicine Initiative and 21st Century Cures Act

#150 Euan Ashley and Stephen Quake on The Genome Odyssey

#172 PhenoTips: Advances in Rare Disease Diagnosis

#182 Eric Green on the Complete Human Genome Project 

#260 PhenoTips: Population Genomics in Clinical Practice

#214 Genetics Wrapped 2022

#236 Assessing for Alzheimer’s Disease with Quest Diagnostics

#266 Genetics Wrapped 2023

#318 Genetics Wrapped 2024

Mark your calendar for the general AGBT conference in Orlando, FL from Feb 23rd to 26th, which I am hoping to attend. And September 2026 in Coronado, California for next year’s AGBT Precision Health conference. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

We recorded this three years ago, but as I was listening back to our conversation, I realized it was still relevant and timely with most, if not all, applications for genetic counseling and other graduate schools now open. We also chat about science communications and networking and other important aspects of a science career. 

Over the years I’ve mentored dozens of applicants through this application process and enjoy being a part of their journeys where I can offer advice along the way. I thought it would be helpful to adapt this into a formal group so a couple years ago we launched a Patreon geared specifically towards DNA Today listeners who are going through the GC application process. So I’ll throw that in the show notes or you can go to Patreon.com/DNATodayPodcast if you want to join, especially for our monthly Zoom chats about applications. 

As we mentioned above, this episode originally aired on Beyond The Thesis with Papa PhD, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out!

• RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• All Access DNA
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• Parálisis Cerebral Respuestas
• Two brand new shows debuting later this year 

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.

Episode Topics: 

• Grad School Application Best Practices: Insights into personal branding, networking, and navigating the application process for grad school.
• Science Communication's Role: How podcasting and other forms of science communication have influenced Kira Dineen's career as a genetic counselor.
• Networking and Personal Branding: The importance of networking and personal branding in building a career, especially when academic grades aren't stellar.
• Genetic Counseling Career Path: The educational requirements and career path for becoming a genetic counselor in the US and Canada.
• Communication Skills: The critical role of communication skills in both academic and professional settings, particularly in science-related fields.
• Informational Interviews: The value of conducting informational interviews to build connections and gain insights into potential career paths.
• Personal Statement Writing: Tips for crafting a compelling personal statement for grad school applications.

DNA Today Relevant Episodes: 

#87 Genetic Counseling Grad School Apps (Part 1) 

#97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2) 

#101 Genetic Counseling Match Day 

#193 Genetic Counseling Application Advice with GC Prep: Part 1 

#194 Genetic Counseling Application Advice with GC Prep: Part 2

#245 Genetic Counseling Program Applications: Part 1

#246 Genetic Counseling Program Applications: Part 2

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

With partnerships across biotech, government, and patient advocacy groups, RDDC is reshaping the policy landscape to ensure historically underrepresented communities are not left behind. Right now we are capturing Jenifer’s insider perspective on advocacy strategies, legislative progress, and how every member of the rare disease community can engage in meaningful change. 

• Why the Rare Disease Diversity Coalition (RDDC) was created
• Unique health disparities impacting rare disease patients
• Barriers faced by black, brown, and LGBTQ+ communities in rare disease care
• Collaborations between advocacy organizations and biotech leaders like Amgen
• Legislative efforts, including RDDC’s HEARD (H.R.1750) health equity bill with Rep. Marilyn Strickland
• Strategies for engaging Congress and policymakers effectively
• How patients and families can prepare for Capitol Hill advocacy meetings
• Practical advice for advocates who feel powerless but want to get involved
• Long-term vision for advancing equity in rare disease research, care, and policy

Rare Disease Diversity Coalition (RDDC) Website The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)

H.R.1750 - HEARD Act of 2025 (Health Equity and Rare Disease Act of 2025) 

The Tuskegee Syphilis Study  

We Work For Health 

Amgen's Urea Cycle Disorder Series Part 1: #282 The Evolution of Caring for Females With OTC Deficiency

Amgen's Urea Cycle Disorder Series Part 2: #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care

Amgen's Urea Cycle Disorder Series Part 2: #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders

Connect with DNA Today:

Shoutout to listener Grace Dougherty for recommending Jenifer Waldrop to be a guest on the show! Do you have someone you want to hear on DNA Today? Send a pitch to info@DNAtoday.com. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research, and Alice Peng from MGI Tech, a global leader in gene sequencing innovation.

Together, they offer a powerful global perspective on the challenges and solutions in rare disease diagnostics, from rapid whole genome sequencing in the NICU to affordable access in developing regions.

Alice (Yao) Peng, Sales Manager of MGI, is responsible for the Turkish Market. She has been working in the genomics field for eight years, the last five have been with MGI. Her background is in preventive medicine, and she is passionate about bringing innovative genetic solutions to customers in Turkey. 

Professor Dr. Serdar Ceylaner is a medical doctor - medical geneticist who focuses on rare and undiagnosed diseases for both diagnosis and scientific studies. He is the director, partner and founder of Intergen Genetics and Rare Diseases Diagnostic and Research Center and Lokman Hekim University, Department of Medical Genetics. He holds various leadership positions including being the Vice President of the Rare and Undiagnosed Diseases Committee, of the  European Union of Medical Specialists (UEMS). 

Dr. Ceylaner is the former president of the Turkish Medical Genetics Association. He was the founder of the Genetics Department of Zekai Tahir Burak Women's Health and Training Hospital between 1997 and 2017. He has focused on genetics and rare diseases and studies in this field for 30 years. He established a center for diagnosis, research and educational work in this field. Undiagnosed diseases, medical complications, and intensive care unit patients are the main research areas in recent years. He has experience in more than 250 international publications, 10 book chapters, more than 500 conferences, and more than 50 scientific projects.

• The rare disease burden in Turkey and the impact of consanguinity
• Prevalence of dual or triple diagnoses in Turkey and the impact of tailoring treatment 
• Why exome and genome sequencing are replacing panel testing
• The diagnostic power of rapid WGS in NICUs
• Tools MGI offers to accelerate analysis and interpretation
• Making sequencing more accessible in low-resource settings
• The role of genomics in precision prescribing
• Opportunities to improve patient quality of life post-diagnosis
• What’s next for sequencing innovation and rare disease care

• DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar 
• The Undiagnosed Diseases Network (UDN)
• MGI’s Sequencing Platforms
• Dr. Serdar Ceylander’s INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics, both of whom have decades of experience in the field. Kristy, a product manager, brings deep expertise in pharmaceuticals, while Kathleen, a board-certified genetic counselor, specializes in pharmacogenomics and hereditary oncology.

In this episode, we’ll explore:

✅ How pharmacogenomics (PGx) works and what results the test provides ✅ How PGx testing prevents adverse drug reactions and improves treatment ✅ Real-world examples of PGx in action ✅ Challenges and future trends in integrating pharmacogenomics into healthcare ✅ What patients should know before getting tested

The Panel: 

Kristy Bouvier started her career with Quest Diagnostics in 2014 as a Neurology Account Executive for the Boston North territory.  In this role she has over 8 years of experience in laboratory sales specializing in neurology and genetics. Currently Kristy serves as a product manager for U.S. Specialty genetics where she is responsible for the Quest genetics portfolio in rare diseases.  She currently manages the biochemical genetics, cytogenetics, pharmacogenomics, and whole exome product lines.

Kathleen O’Brien, MS, DABMG, CGC is a board-certified genetic counselor who has been with Quest Diagnostics since 2005. She previously worked in clinical genetic counseling at Stony Brook University Hospital, Winthrop University Hospital (now NYU), and the NYS Institute for Basic Research. She earned her Master of Science in Genetic Counseling from the University of Colorado Health Sciences Center and has a special interest in hereditary oncology and pharmacogenomics, actively contributing to CPIC, NSGC, and the NSGC pharmacogenetics working group.

Resources: 

Quest’s New Pharmacogenomics Panel

GeneReviews

ClinPGx

Sequence2Script

The PREPARE Study

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

DNA Today Episode #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) with Dr. Josiah Allen 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Two inspiring and informative guests join the episode: 

Jena Robertson is the Program Administrator at Team Telomere, a patient advocate, and mother to Lorelei (“Rori”), a young girl living with a telomere biology disorder. Will Mannherz is a MD-PhD Harvard Medical School student and co-author of multiple research papers exploring TBDs and emerging therapeutic strategies.

Together, Jena and Will help us understand both the personal and scientific sides of TBDs, from diagnosis to discovery.

• Jena shares the emotional and complex diagnostic odyssey for her daughter Rori that included multiple misdiagnoses. 
• Rori’s final correct diagnosis of Dyskeratosis Congenita, which is a telomere biology disorder. 
• What it’s like parenting a child with a rare, poorly understood condition.
• The role of Team Telomere in providing support, resources, and hope to families worldwide.
• Will explains the biology of telomeres, what goes wrong in TBDs, and how thymidine may help elongate telomeres.
• Importance of family health history in understanding TBD disorders
• Insights from recent research and what early findings suggest about future treatment potential.
• How researchers and families are coming together to accelerate progress in this ultra-rare disease space.
• The upcoming clinical trial starting Fall 2025 at Boston Children’s Hospital

Slight correction: In the interview Kira indicates that Team Telomere exclusively raised $1 million for the disorder, this is incorrect, there were other donors involved that all added up to $1 million including Boston’s Children’s Hospital and the Martin family.

Memorable Quotes

🗨️ “We kept getting misdiagnoses... it was frustrating, but it also pushed us to keep looking until we found someone who understood telomere biology.” – Jena Robertson

🗨️ “It’s rare, but the impact is massive. Understanding telomere biology isn’t just about rare disorders—it’s about aging, cancer, and regenerative medicine.” – Will Mannherz, MD, PhD

About Team Telomere

Team Telomere is a New York–based nonprofit dedicated to supporting families impacted by telomere biology disorders. Through advocacy, community-building events like Cocktails & Chromosomes, and support of cutting-edge research, Team Telomere is lighting the path forward for TBD patients and their families.

Learn more and get involved here. 

• DNA Today Episode #93 Team Telomere featuring Dr. Suneet Argwal, Katie Stevens, and Dr. Sharen Savage 
• A Race for Rori: The Work of Dr. Suneet Agarwal (Video played at event)
• Team Telomere
• Team Telomere’s Profile on Rori
• Agarwal Lab (Drs. Suneet Agarwal, Will Mannherz, et. al. TBD research) 
• Fall 2025 Clinical Trial: Nucleoside Therapy in Patients With Telomere Biology Disorders
• Dyskeratosis Congenita Information via Boston Children’s Hospital
• “Playing the long game: An exciting discovery in telomere disease” Boston Children’s Hospital Article

Check out these key papers Will Mannherz brought up during the episode related to telomere biology disorders and thymidine research. Many of which he is a co-author on!

Domínguez-González, C., Madruga-Garrido, M., Mavillard, F., Garone, C., Aguirre-Rodríguez, F. J., Donati, M. A., Kleinsteuber, K., Martí, I., Martín-Hernández, E., Morealejo-Aycinena, J. P., Munell, F., Nascimento, A., Kalko, S. G., Sardina, M. D., Álvarez Del Vayo, C., Serrano, O., Long, Y., Tu, Y., Levin, B., Thompson, J. L. P., … Hirano, M. (2019). Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Annals of neurology, 86(2), 293–303. https://doi.org/10.1002/ana.25506

Mannherz, W., Agarwal, S. Thymidine nucleotide metabolism controls human telomere length. Nat Genet 55, 568–580 (2023). https://doi.org/10.1038/s41588-023-01339-5

Mannherz, W., Crompton, A., Lampl, N. et al. Metabolic constraint of human telomere length by nucleotide salvage efficiency. Nat Commun 16, 3000 (2025). https://doi.org/10.1038/s41467-025-58221-7

van der Vis, J. J., van der Smagt, J. J., Hennekam, F. A. M., Grutters, J. C., & van Moorsel, C. H. M. (2020). Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years. Chest, 158(2), 612–619. https://doi.org/10.1016/j.chest.2020.03.069

Vulliamy, T., Marrone, A., Szydlo, R. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447–449 (2004). https://doi.org/10.1038/ng1346

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Craig draws on his decades of experience as a London and New York investment banker and as a former partner at WG Partners, where he advised more than 60 biotech companies and worked on marquee deals like the $7.6B sale of Nordia Bank and IPOs for brands like EasyJet and Burberry.

But his latest passion lies at the intersection of finance and innovation: making the case that our future is biotech, without a question mark.

This episode originally aired on RealPharma, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out!

• RealPharma
• Beyond The Thesis with Papa PhD
• DNA Dialogues
• It Happened To Me
• #ThroughTheGenes
• Demystifying Genetics
• PhenoTips Speaker Series 
• All Access DNA
• Parálisis Cerebral Respuestas
• Two brand new shows debuting later this year 

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.

Topics Covered

• Why biology will define the 21st century: Andrew outlines the structural and technological reasons biotech is primed for exponential impact.
• CRISPR, AI, and the "exponential stack": How data storage, ML, and sequencing speed make today's breakthroughs possible.
• Fixing Europe's biotech lag: The cultural, capital, and regulatory headwinds slowing biotech innovation in the UK and EU.
• Rebuilding trust in pharma: Why good actors in drug development don’t get headlines—and how that hurts innovation.
• From Oxford Biomedica to DNA-based storage: Vivid examples of tech cost reductions and where we're headed next.
• The case for optimism: How to resist the press's negative bias and invest in human progress—literally.

• 📘 Andrew’s latest book: Our Future is Biotech on Amazon
• 📕 His first bestseller: How to Own the World on Amazon
• 🌐 Plain English Finance: www.plainenglishfinance.com
• 🔗 Connect with Andrew on LinkedIn: linkedin.com/in/andrewcraigpef

“The last century was about physics and tech. The next one will be about biology—and by extension, biotech.”

“If success begets success, then a crop of billion-dollar biotech companies in Europe can kickstart a self-sustaining cycle of innovation and investment.”

“People forget that the smartphone they hold was a $100 million science project in the 1990s. Biotech is heading the same direction.”

“We need to fight the narrative that pharma is inherently bad. There are good actors, and we must do a better job telling those stories.”

Biotech isn't just a sector—it's a structural solution to some of humanity’s greatest problems. From disease treatment to environmental restoration, the converging forces of AI, genetics, and biological engineering make this the most consequential time in science since the industrial revolution.

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

We want to take this opportunity to announce a project of Monisha Sebastin’s aimed at improving global access to genetics and genomics services, and they need your help! Monisha Sebastin and her team have been working on the Global Directory of Genetics Professionals, a centralized platform to connect providers across the globe and streamline care for patients, especially those requiring cross-border genetics services.

We’re reaching out to genetics providers like YOU to gather data and contact information for this invaluable resource. If you’re a genetics professional, please take a few moments to fill out the survey and ensure your inclusion in the directory. It took our host Kira Dineen 6 minutes to fill out the survey. 

Your participation will help foster better connections in genomics care worldwide, benefiting both providers and patients alike. So please, take the 6-minute survey here.

Monisha Sebastin, MS, CGC, (she/her) is Senior Genetic Counselor, Pediatrics at the Children's Hospital at Montefiore Einstein. In addition to providing genetic counseling services in genetics clinics, Sebastin specializes in rare diseases, cardiovascular genetics and immunogenetics. In 2018, she earned her Master of Science from Sarah Lawrence College. Sebastian has won multiple prestigious awards including the National Society of Genetic Counselors’ (NSGC) 2024 Audrey Heimler Special Projects Award and the 2022 Heart of Genetic Counseling Award in 2022. We caught up with her right after her win on Episode #212 of DNA Today. Sebastin has been principal investigator and contributor to several research projects, and her work has been published in numerous peer-reviewed journals. Her leadership roles include serving as the 2024 President of the New York State (NYS) Genetics Task Force, co-chairing the International Special Interest Group (ISIG) at the NSGC, among many other roles. 

Avital Habshush (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Habshuch is a graduate of Yeshiva University with a B.S. in Biology. She previously served as a genetic testing coordinate at Dana-Farber cancer Institute. The premise of this mock case was Habshush’s work as part of her internship with DNA Today. 

Indication: 30y AFAB referred to genetics by cardiologist for suspected hereditary LQT syndrome. The patient recently fainted during an exercise class and has a family history of fainting and sudden cardiac death. See cardiology evaluation summary attached. 

Patient’s Name: Lev Loveheart 

Cardiac Evaluation: Resting ECG obtained today shows sinus bradycardia (59 bpm) with prolonged QTc of 495 ms (Bazett). T-wave morphology is broad-based without ischemic changes. Electrolytes and TSH are within normal limits. A 14-day ambulatory ECG monitor (Zio patch) is pending. Given the syncopal event, prolonged QTc, and strong family history—including emotion-triggered syncope—the presentation raises concern for congenital Long QT Syndrome, likely type 2 (LQT2).

• Contracting 
  • Introduction 
  • Understanding the referral: personal history of fainting and family history of fainting and sudden cardiac death 
  • Overview of the session
  • Setting expectations and goals
  • Questions   

• Medical History
  • Fainted “only a handful of times” estimates about 4 times in her lifetime 
    • First time fainting was in second grade due to startling  

• Family History 
  • Brother: died at age 25 while running 
  • Maternal: family history not significant 
  • Paternal 
    • Aunt 55 who faints a lot, very emotional
    • Grandfather died at 45 due to heart attack 
    • Grandmother died of old age 90 
  • Ancestry: Ashkenazi Jewish and Yemen 

• Patient education 
  • Overview of genetics
  • Explaining Long QT Syndrome and how this might explain family history 

• Risk assessment 
  • Explain how family history factors in to your calculation
  • Which genes/syndrome would you test for? 
  • Who is the best person to be tested? 

• Shared Decision Making 
  • Explain the type of testing
  • Explain the 3 types of results 
  • Asking the patient if they are interested in testing? 
  • GINA

• Recommendations and Next Steps 
  • Summarize session
  • Offer resources 

Episode #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally

Episode #287 Familial Hypercholesterolemia with Jess and Julie

Episode #283 Cardiogenetics with Blueprint Genetics

Episode #76 Amy Sturm on Cardiac Genetic Counseling

National Society of Genetic Counselors’ Cardiovascular Genetics Special Interest Group

New York City’s Office of the Chief Medical Examiner Molecular Genetics Laboratory

Long QT Syndrome GeneReview’s Overview

Sudden Arrhythmia Death Syndromes: Long QT Syndrome 

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age