DNA Today: A Genetics Podcast

What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life. In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU. We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards. Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care. Thank you to PTC Therapeutics for sponsoring this three-part series on PKU. Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. Episode Discussion Topics Why PKU helped launch newborn screening in the United States What life was like for individuals with PKU before newborn screening How PKU affects the body on a metabolic level The role of phenylalanine hydroxylase deficiency Why elevated phenylalanine levels can impact brain development Dr. Robert Guthrie’s role in developing newborn screening The history and significance of the Guthrie card Sarah’s experience learning her daughter’s newborn screen was flagged for PKU What confirmatory testing and early treatment looked like for Izzy How newborn screening panels vary across states What the Recommended Uniform Screening Panel, or RUSP, is Gaps in access to medical formula and low-protein medical foods Why insurance coverage remains a major challenge for families The promise and concerns around newborn sequencing How clinicians can better support newly diagnosed families Why connecting families with community early can be life-changing The need for more metabolic geneticists, genetic counselors, and dietitians Guest Bios Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders. Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor. Resources PKU / Phenylketonuria Phenylalanine hydroxylase deficiency ACT Sheet The Newborn Screening Information Center (NBSIC) Recommended Uniform Screening Panel, or RUSP RUSP overview for families ACMG Newborn Screening ACT Sheets and Algorithms flok health Baby’s First Test: Newborn Screening Information National PKU Alliance Referenced DNA Today Podcast Episode #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida 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 400 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 Stamford Studios. DNA Today is hosted and produced by K

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution. 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 k

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact. 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. In This Episode, We Discuss Setting the Stage: IPATIMUP’s Role in Oncology How IPATIMUP fits into Europe’s oncology landscape Why a research-driven approach is central to its diagnostic mission From Research to Routine Diagnostics Translating research findings into clinical workflows Balancing innovation with responsibility in patient-facing diagnostics Choosing the Right Technology Partner 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 Large Gene Panels in Clinical Practice 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 RNA Sequencing as a Diagnostic Advantage 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 Automation, Scale, and Quality 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 Relevant Resources: IPATIMUP MGI Tech MGI’s Sequencing Platforms Gene+ (Website currently under construction) Relevant DNA Today Podcast Episode: #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 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 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), BluSk

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 findsClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Impl

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 delive