DNA Today: A Genetics Podcast

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis. 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. Inside This Episode: 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. About Our Guests: 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. Relevant Resources: CureSialidosis.org Kiwi siblings battling rare genetic condition Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald More Lysosomal Storage Disorder Episodes on DNA Today: #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 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 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 [email protected].

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape. Shoutout to the lead organizer Anthony Zuo for putting this conference together. The Panel (in order of appearance) 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. Topics Discussed The Burden of Expertise 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. Navigating the Emergency Room 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. The Battle with Insurance and Systems 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." The Power of Community and Storytelling 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 [email protected].

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. 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 B

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! 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 [email protected].

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. 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. Topics Covered in This Episode: 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. Resources & Links: 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 [email protected].

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey. 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. Together, we discuss: 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 Relevant Resources: 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. Relevant DNA Today Podcast Episode: #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 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 [email protected].

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab. 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 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 keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website. 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. Than

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels. 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 [email protected]. 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 [email protected].

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), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

February 3rd, 2026 Update: 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! ------------------------------------------------------------------------------ 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

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 Ful

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 [email protected].

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 [email protected].

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