DNA Today: A Genetics Podcast
DNA Today is a multi-award winning podcast that explores new advances in genetics, including topics like CRISPR, rare diseases, and new research. Host Kira Dineen interviews geneticists, genetic counselors, patient advocates, and biotech leaders. The show has been running for over a decade and has produced over 400 episodes. It is part of the Gene Pool Media science podcast network.
Episodes
#401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
Just a few years ago, there were no pharmacological treatments for patients with achondroplasia. Today, with multiple therapies on the market, the conversation has shifted from if we can treat to how we treat safely, consistently, and thoughtfully.
In this third and final installment of our achondroplasia series, sponsored by BioMarin, we explore the recently published international consensus gui
#400 The Story Behind "DNA Today"
Four hundred episodes. Nearly fourteen years of conversations. One podcast that began with a high school student, a Rock Band microphone, and a deep curiosity about genetics.
For this milestone episode, DNA Today is turning the microphone around. Kira Dineen is joined by Jess Rizzo, a 2026 graduate of the Rutgers University Genetic Counseling Master’s Program, to look back at the evolution of DNA
#399 How PKU Changed Newborn Screening Forever
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 c
#398 Soil Microbiomes, Plant Genetics, and Groundswell with Nikki Reed and Rebecca Tickell
What if the future of human health doesn’t just begin in the clinic, but in the soil?
In this episode of DNA Today, we explore the new documentary Groundswell, the final chapter in the regenerative agriculture documentary trilogy that began with Kiss the Ground and continued with Common Ground. Narrated by Demi Moore and Woody Harrelson, Groundswell follows regenerative agriculture solutions acros
#397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors
Recertification is changing for genetic counselors. The American Board of Genetic Counseling (ABGC) now requires completion of new Continuing Competence Learning Scenarios as part of maintaining the CGC credential.
These are not traditional quizzes with one correct answer. Each scenario presents a complex genetic counseling situation, followed by reflective questions, peer rationales, and educatio
#396 Gene Therapy for Anxiety? Precision Psychiatry through CRISPR & RNA
Anxiety is one of the most common mental health conditions, but for many people, it can also feel deeply isolating. Current treatments such as therapy, SSRIs, and benzodiazepines can be life-changing, but they do not work for everyone, and they often manage symptoms rather than addressing the underlying biology of anxiety.
In this episode of DNA Today, host Kira Dineen is joined by Dr. Troy Rohn,
#395 Mapping Melanoma: How Spatial Biology Is Advancing Cancer Research
What if we could study melanoma not just cell by cell, but in the exact place those cells live inside the tumor?
That is the promise of spatial biology. In this episode of DNA Today, we explore how emerging genomic technologies are transforming melanoma research by allowing scientists to examine not only which cells are present in a tumor, but where they are located, how they interact, and why tho
#394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida
Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care.
In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-yea
#393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap
Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families.
Joining
#392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism
What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life.
But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and
#391 Living with FSGS: A Genetic Kidney Disease Journey
Kidney disease affects more than 1 in 7 adults in the United States, yet many people do not realize they are at risk until symptoms become serious. For some patients, kidney disease is tied to rare or genetic causes, making diagnosis and treatment even more complex.
In this episode of DNA Today, we explore focal segmental glomerulosclerosis (FSGS), APOL1-mediated kidney disease (AMKD), and the rea
#390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story
In this special episode of DNA Today, Kira Dineen sits down with Mayte Garcia — artist, author, internationally acclaimed dancer, actress, singer, choreographer, philanthropist, and the former wife of Prince — for a deeply personal conversation about love, loss, legacy, and the rare genetic condition Pfeiffer syndrome type 2.
You may know Prince as one of the most influential musicians of all time
#389 From Natural History to Gene Therapy: The Future of Danon Disease Research
Danon disease is a rare, X-linked metabolic disorder that strikes at the heart of cellular function. Caused by mutations in the LAMP2 gene, it disrupts the body’s ability to clear cellular waste (autophagy), leading to devastating and often life-threatening cardiac complications. Because the disease is so rare, understanding its natural progression, and how to stop it, is the current "North Star"
#388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey
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 condi
#387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System
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
#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs
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 s
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
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 help
#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey
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
#383 Inside the Brazilian Rare Genomes Project
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 b
#382 “The Persistence Lab” Episode 1 — Can We Find Cures Faster?
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 desi
#381 Charles Darwin’s Legacy: What He Got Right & What Science Learned Next
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
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
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 drive
#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing
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 diagn
#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients
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 sign
#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 De
#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.
#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 bridgi
#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 medicin
#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 highl
#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 no
#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 build
#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine
To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026.
The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper.
Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green.
In this ref
#369 Grant Funding for Genetic Counselors: Advice from a $20M Awardee
What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it
#368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency
This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency.
This session was recorded in-person, providing a more dynamic and engaging learning experience th
#367 “Gods and Genes”: A Podcast Exploring Science & Spirituality
Science and religion don’t have to be in conflict. In this special crossover, we premiere the pilot episode of “Gods and Genes”, a new brand podcast in the Gene Pool Media network hosted by Amber Sher, MS, CGC. Our host Kira Dineen interviews Amber about the conversations that emerge when genomics meets spirituality, from how clinicians respectfully engage with patients’ beliefs to how our own wor
#366 Inside NSGC 2025: Entrepreneurship, Career Growth, & Genetic Counseling Trends
We’re back from the 44th National Society of Genetic Counselors (NSGC) Annual Conference, which took place this year in scenic Seattle, Washington! Between the waterfront views, lively poster sessions, and packed educational symposia, the energy was electric as genetic counselors and industry partners came together to celebrate the progress and future of our field.
This marks the 7th year in a row
#365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science
The 11th annual Raw Science Film Festival took place this past weekend in New York City. We were lucky enough to be invited and had the honor of interviewing Dr. Larry Corey in-person. He is a renowned expert in virology, immunology and vaccine development who was featured throughout the film “Ending HIV: The Journey to a Vaccine”. The film won the Jury Award for Best Professional Documentary Feat
#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast cancer genetic testing is being implemented there.
We’re joined by two expert guests:
Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where s
#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
We just wrapped an incredible week at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in the historic Boston, Massachusetts! This year’s gathering brought together thousands of geneticists, clinicians, and innovators to share discoveries that are reshaping the field.
In this episode of DNA Today, host Kira Dineen takes you inside the conference experience, from lively poster ses
#362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
What if we could detect structural changes in DNA that traditional tests often miss? On this episode of DNA Today, we’re diving into optical genome mapping (OGM), a cutting-edge technology transforming how we detect genetic variants and structural abnormalities. We’ll explore what OGM is, how it compares to existing genetic tests, and what it means for patients and families worldwide.
Our guest
#361 The Economics of Genetic Counseling: Policy, Industry & Career Advice
The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut.
Our host Kira Dineen resides in Connecticut and has been lucky enough to present every year. This time moderating a panel about the economics of genetic counseling, which is now
#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”
What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.
In this episode, we are joined by Devin Sidell, the film’s co-writer, producer, and lead actress, who brings h
#359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains
What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today.
Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the Midwest Regional Bone Dysplasia Clinic and the Neuromotor Development Clinic at UW Health Kids. With a long-standing res
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections
The AGBT Precision Health 2025 Meeting took place this week at the sunny and gorgeous Loews Coronado Bay Resort in the San Diego, California area.
This conference brings together leading genomics researchers, healthcare professionals, and healthcare industry stakeholders to usher in a new era of precision medicine. Precision Health remains at the forefront of cutting-edge technologies, real-world
#357 Advice for Science Grad School Applications
Happy September and back-to-school season, going with this theme we are sharing an episode from a show in our Science Podcast Network, Gene Pool Media. The podcast is called Beyond The Thesis with Papa PhD. It’s hosted by the wonderful Dr. David Mendes and in this episode that you are about to hear he interviews me.
We recorded this three years ago, but as I was listening back to our conversati
#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
What does it really take to move the needle on health equity for rare diseases, especially on Capitol Hill? In this episode, we are joined by Jenifer Waldrop, Executive Director of the Rare Disease Diversity Coalition (RDDC). Under her leadership, the coalition is tackling systemic inequities across the rare disease journey, from timely diagnosis to clinical trial access, treatment development, an
#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey
What if we could ease the suffering of patients with undiagnosed or rare diseases?
In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research,
#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions
Why do some medications work perfectly for one person but cause side effects—or fail completely—for another? The answer often lies in our genes. Pharmacogenomic (PGx) testing analyzes how our DNA affects our response to medications, helping doctors personalize treatment, reduce adverse reactions, and improve outcomes.
Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics,
#353 Advancing Telomere Research: A Breakthrough Leads to Clinical Trial
This special episode of DNA Today was recorded live during Cocktails & Chromosomes, a celebration hosted by Team Telomere in New York City. Held at the stunning venue donated by Hogan Lovells (390 Madison Ave), the evening brought together the telomere biology disorder (TBD) community, including patients, families, clinicians, and researchers, for cocktails, connection, and powerful conversati
#352 Why Biotech Will Define the 21st Century
In this bold and wide-ranging conversation, Ian Wendt and Na-Ri Oh sit down with Andrew Craig—British investor, entrepreneur, and author—to explore how biotechnology is poised to shape the next century in the same way physics and computing shaped the last.
Craig draws on his decades of experience as a London and New York investment banker and as a former partner at WG Partners, where he advised
#351 Mock Cardiac Genetic Counseling Session
This is our fourth installment in our new Mock Genetic Counseling Session Series! In this episode, cardiac and pediatric genetic counselor Monisha Sebastin and student Avital Habshush perform a mock genetic counseling session. The session indication is a family history of sudden death.
This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we h
#350 How To Talk About DNA Without Losing People: Strategies Part 2
THIS IS PART TWO, go back and listen to Episode #345 for the first half of this conversation.
The co-founders of The Science Underground rejoin our host Kira Dineen for the second part of their conversation continued from Episode #345. This episode was also recorded in-person and discusses the importance of effective science communication in genetics and approaches to achieve this.
The Scien
#349 Ethical Dilemmas in Genetic Testing: Dr. Madison Kilbride Weighs In
Bioethicist Dr. Madison Kilbride is interviewed by Sarah Lawrence College genetic counseling student Shaun Miller. This is part of Shaun’s internship with DNA Today.
At the University of Utah, Madison Kilbride is Assistant Professor of Philosophy specializing in bioethics. Her research focuses on ethical implications of genetic testing, particularly direct-to-consumer (DTC) genetic testing, genet
#348: NIPT Beyond the Basics: Screening for Single-Gene Conditions
Prenatal screening has transformed over the past decade, with Non-Invasive Prenatal Testing, or NIPT, becoming a go-to tool for early risk assessment. But even as adoption increases globally, we’re still facing real gaps, from limited condition coverage to a lack of support in interpreting results.
On this episode, I’m joined by Dr. Fred Ushakov, a renowned fetal medicine expert based in London.
#347 Gender Affirming Cancer Genetic Counseling
To celebrate the end of Pride month, we are sharing this episode of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen.
The current rise in structural hostility towards transgender and gender diverse individuals highlights the importance of appropriate and affirming care for this medically marginalized community. In cancer genetics, specific factors such as medical transition
#346 Patient Experiences with Sickle Cell Experimental Treatments: The Triumphs & Trials
We’re kicking off Season 2 of #ThroughTheGenes with a powerful and personal episode in honor of World Sickle Cell Day, which was commemorated yesterday on June 19th.
This podcast isn’t just about science, it’s about storytelling through the lens of lived experience. Hosted by three uniquely different women who have experience with transformative therapies for sickle cell disease, this season cel
#345 How To Talk About DNA Without Losing People: Strategies Part 1
The co-founders of The Science Underground join our host Kira Dineen for an in-person episode to discuss the importance of effective science communication in genetics and approaches to achieve this.
The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish.
Topics Discussed:
Strategies for makin
#344 Trans and Gender Diverse Patients' Experiences with Reproductive Healthcare
We wanted to let you know of a live podcast episode of the PhenoTips Speakers Series happening soon on June 18th, 2025 at 12pmEST. We do an annual pride installment, this year we are exploring Gender Affirming Cancer Genetic Counseling. Sign up here so you can tune in and ask your questions live to host Kira Dineen and the impressive panel we have lined up.
Have you heard? I launched a brand new
#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure
What would you do if your child was diagnosed with a terminal genetic condition, and the only hope for survival required raising $2.2 million?
In this deeply moving episode of DNA Today, we’re joined by Joe Jackson, a rare disease advocate and father of 7-year-old William, who lives with Duchenne Muscular Dystrophy (DMD), a rare, progressive genetic disorder that leads to muscle degeneration and
#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency
What would you do if you won $10 million?
For Jeff and Jennifer Allen, the answer was simple: fund research to find a cure for their son’s rare genetic condition.
In this episode of DNA Today, we’re joined by Jeff and Jen Allen; Jeff is known to over 100 million YouTube viewers as Player 831, the winner of MrBeast’s high-stakes reality series Beast Games—and the recipient of the largest game sho
#341 How One Family Faced Seven ALS Diagnoses and Chose Advocacy
In honor of ALS awareness month, we are joined by Debbie Lower. She is a remarkable advocate, educator, and caregiver whose family has been deeply impacted by ALS. Over the last three decades, Debbie has lost seven family members to ALS and frontotemporal dementia (FTD), many of whom carried the C9orf72 gene mutation. From caregiving for her mother to mentoring other families and advocating for re
#340 How Podcasting Shaped A Genetics Career: Dr. Matt Burgess Interviews Kira Dineen
I launched a brand new science podcast network called Gene Pool Media, two weeks ago on DNA Day, April 25th. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including…
RealPharma
Beyond The Thesis with Papa PhD
DNA Dialogues
It Happened To Me
#ThroughTheGenes
Demystifying Genetics
PhenoTips Speaker Series
All
#339 Inherited Leukemia: Exploring Genetic Risk and Early Detection
A week ago on DNA Day, April 25th, I launched a brand new science podcast network called Gene Pool Media. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including…
RealPharma
Beyond The Thesis with Papa PhD
DNA Dialogues
It Happened To Me
#ThroughTheGenes
Demystifying Genetics
PhenoTips Speaker Series
All Acce
#338 Social Determinants of Health and Mental Health in Urea Cycle Disorders
Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think
#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors
Submitting a research paper for publication can be an overwhelming process, especially for early-career researchers. How do you choose the right journal? What are editors really looking for? And how can you improve your chances of acceptance?
To answer these questions and more we are joined by two editors from Wiley’s Advanced Portfolio. Dr. Lei Lei is a Senior Manager of Wiley’s Advanced Portf
#336 Sharpening Genetic Counseling Skills with GC+ Academy
It’s an in-person episode! On Sarah Lawrence College’s campus, host Kira Dineen interviews former classmate Carli Andrews, MS, CGC. We explore the evolving landscape of continuing education for genetic counselors.
Carli joins us to discuss GC+ Academy, an innovative educational initiative designed to enhance professional skills and provide continuing education units (CEUs) for genetic counselor
#335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution
This conversation is a follow-up to Episode #326: How DNA Solves Crimes – The Forensic Science Behind True Crime, where we explored the role of DNA in forensic investigations including the infamous O.J. Simpson case. Dr. Henry Erlich returns to the show to talk about human ancestry and evolution.
Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to crimin
#334 ACMG 2025 Recap
To recap the American College of Medical Genetics (ACMG) held in Los Angeles, host Kira Dineen is joined by Karl Krahn. The conference ended Saturday so instead of waiting until Friday to share this episode we released it early.
Through this conversation, Kira and Karl reflect on their first attendance at the ACMG conference. They share insights on the sessions and events they attended, highlig
#333 Approaching a Down Syndrome Diagnosis with Care
To celebrate World Down Syndrome Day (which is today March 21st, 2025) our host Kira Dineen sits down with Carissa Carroll, the founder of Jack’s Basket, a nonprofit dedicated to celebrating babies with Down syndrome and supporting their families. Inspired by her son Jack, Carissa launched Jack’s Basket to provide new parents with resources, encouragement, and community connections.
In this heartf
#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
This week we attended the 2025 Connecticut Rare Disease Forum organized by BioCT and held at the beautiful Jackson Laboratory. This afternoon was filled with industry-led discussions on innovation in rare disease diagnostics and treatments, along with the promising impact of these advancements on patient outcomes.
After the events wrapped, I caught up with Pamela Gavin, who serves as the Preside
#331 Pediatric Mock Genetic Counseling Session: Autism and Developmental Delay
This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism.
This session was recorded in person, providing a more dynamic and engaging
#330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome
Happy Rare Disease Day! We are celebrating by shining a light on Wiedemann-Steiner Syndrome (WSS), which is a rare genetic condition that affects development, growth, and overall health.
Joining us are Caleb and Abbi Wahl, parents to two daughters, one of whom, Jenni Anne, was diagnosed with WSS after a seven-year diagnostic odyssey.
They share:
🧬 Early signs & the long road to diagnosis
💡 Ho
#329 Preventive Genomic Medicine: Saving Lives and Healthcare Costs with MyOme
How can preventive genomic medicine save $200 billion annually in healthcare costs? Dr. Matthew Rabinowitz breaks it down in this episode.
Dr. Rabinowitz—a true pioneer in genetics, diagnostics, and AI—who’s been at the forefront of transforming how we approach health and medicine. Dr. Rabinowitz isn’t just a scientist; he’s a visionary who’s helped create groundbreaking technologies, from revolut
#328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases
This week, I attended BIO’s CEO and Investor Conference in New York City—one of the largest investor gatherings in the biotech industry. The conference, organized by BIO (Biotechnology Innovation Organization), brings together institutional investors, industry analysts, and senior executives to discuss the latest biotech advancements and investment opportunities.
At the conference, I attended insi
#327 How Patient Advocacy is Changing Rare Disease Research
February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community—Gay Grossman!
Gay is the co-founder of ADCY5.org, a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-body p
#326 How DNA Solves Crimes: The Forensic Science Behind True Crime
True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wro
#325 Revolutionizing Variant Curation with MAVEs
We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs).
Joining us are two leading experts in the field:
Dr. Lea Starita, Associate Professor at the University of Washington and Co-Director of the Brotman Baty Advanced Technology Lab.
Dr. Douglas Fowler, Professor of Genome Sciences and Co-Director of the Center for the Multiplexe
#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)
With millions of people now taking GLP-1 agonists like Ozempic and Wegovy, I was curious to learn if there are known genetic mutations that predispose people to have serious side effects from these medications. So exploring the pharmacogenomic aspects of Ozempic and Wegovy.
To answer these questions Dr. Josiah Allen is joining the show. Josiah Allen, PharmD, has spent over 15 years in the field
#323 Supporting Ongoing Urea Cycle Disorder (UCD) Care
Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think
#322 Susannah’s Nano-Rare Journey: 2 Years of Treatment and Triumph
Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients!
In this special episode drop, we’re revisiting the inspiring journey of Susannah, whose story was the first ever shared on the Patient Empowerment Program podcast. Now, two years later, Susannah’s father, Luke Rosen, and her physician, Dr. Jennifer Bain, join us to share her remarkable progr
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