DNA Today: A Genetics Podcast

Kira Dineen, Gene Pool Media
  • 4.7 (153)
  • LIFE SCIENCES
  • UPDATED WEEKLY

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 365+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.

  1. 1D AGO

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

    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!    ------------------------------------------------------------------------------   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.    In This Episode, We Discuss 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 Relevant Resources:  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    Relevant DNA Today Podcast Episode: #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)   Connect With Us:  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.

    33 min

  2. 3D AGO

    #377 Integrating Pharmacogenomics (PGX) into Elder Care

    What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help? 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. On This Episode We Discuss: 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 Our Guest:  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.

    31 min

  3. JAN 16

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

    What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders. 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.

    35 min

  4. JAN 9

    #375 How Your Publication Can Fuel Genetic Innovation

    What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? 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. Topics Covered In This Episode:  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 Key Takeaways 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.

    27 min

  5. JAN 2

    #374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine

    What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning?  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   About the Guest 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.

    45 min

  6. 12/26/2025

    #373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

    This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis.    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. The Actors: 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.    Mock Session Information: 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   Relevant Cystic Fibrosis Genetic DNA Today Episodes: #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   Previous installments of our Mock Genetic Counseling Session series: 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  Disclaimer: 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.    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—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.

    43 min

  7. 12/19/2025

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

    What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? 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.

    48 min

  8. 12/12/2025

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

    In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. 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. On This Episode We Discuss: 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.

    35 min
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About

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 365+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.

Information

  • Creator
    Kira Dineen, Gene Pool Media
  • Years Active
    2017 - 2026
  • Episodes
    379
  • Rating
    Clean
  • Copyright
    © DNA Today, LLC 2012-2024
  • Show Website
    DNA Today: A Genetics Podcast

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