DNA Today: A Genetics Podcast

For the third year in a row, DNA Today is bringing you inside the American Society of Human Genetics (ASHG) Annual Meeting, and this year, we've taken our genetics coverage international! We're reporting from beautiful Montréal, Canada, where thousands of geneticists, researchers, clinicians, and industry leaders gathered to share the latest breakthroughs shaping the future of genomics. From cutting-edge technologies to big questions about the future of genetic medicine, there's no shortage of exciting science to unpack. And don't worry, we're bringing you all the highlights, no passport required, eh?

In this episode, host Kira Dineen takes you behind the scenes of ASHG 2026 through two special segments recorded at the conference.

First, we stop by the Nabsys booth to chat with Founder and CEO Barrett Bready, MD, about how Electronic Genome Mapping (EGM) is advancing our ability to detect structural variants. We explore how the technology compares with traditional approaches, its emerging applications in hematologic malignancies, and the latest research Nabsys is showcasing at ASHG.

For our second segment, we're live on location! DNA Today teamed up with Wiley's Advanced Portfolio to co-host a special brunch featuring a live podcast recording right from the conference. With breakfast on the table and big questions on the menu, Kira moderated a conversation with leading genetics researchers and publishing experts about the discoveries, challenges, and opportunities shaping the field. From translating genetic findings into new therapies and harnessing AI to accelerate research to fostering interdisciplinary collaboration and rethinking the role of scientific publishing, this discussion goes beyond the conference presentations to explore where genetics is headed next.

Whether you joined us in Montréal or are experiencing the conference from afar, consider this your front-row seat to some of the conversations shaping the future of genetics. We're serving up fresh science with a side of maple syrup, because when it comes to genetics, there's always more to discover, eh?

Nabsys Segment Guest 
Barrett Bready, MD is Founder and CEO of Nabsys. He is passionate about the impact that advanced technology can have on the understanding of disease as well as on its diagnosis and treatment.  He has raised $150 million to realize a new way of analyzing DNA that uses proprietary solid-state electronic nanodetectors to analyze very long molecules, with an initial focus on genomic structural variation. Barrett is an adjunct professor at Brown University where he lectures on the rapidly evolving business of life sciences. He serves as a commissioner of the I-195 Redevelopment District Commission, a major land redevelopment initiative in downtown Providence, RI with a focus on life sciences and other high-technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year, and in 2018, a career achievement award from the Warren Alpert Medical School of Brown University. Barrett graduated from the highly competitive Program in Liberal Medical Education (PLME) at Brown University where he received an M.D. and an Sc.B. in Physics and won the undergraduate physics award (the Lindsay Prize) and the Galletti Prize for physics in medicine.

Nabsys Discussion Topics

ASHG 2026 conference highlights and a presentation on electronic genome mapping (EGM) in hematologic malignancies

Why genomic structural variants matter in cancer and rare disease

How traditional sequencing and cytogenetic approaches may leave gaps in detecting structural variation

Nabsys’ electronic genome mapping as a high-resolution, top-down approach to studying genome structure

How EGM uses electrical detection to read sequence-specific tags on long DNA molecules

Identifying deletions, insertions, inversions, and translocations by comparing tag patterns

How EGM relates to traditional cytogenetic methods such as FISH and karyotyping

The nanochannel detection process and how DNA molecules affect ionic current as they pass through

Nabsys’ relationship with Hitachi and the potential to scale the technology

Nabsys’ goal of expanding access to structural variant detection and single-molecule insights

ASHG posters on CRISPR-Cas9-mediated assay specificity and EGM applications for copy number variants in constitutional disorders

The potential for EGM to combine modalities and increase diagnostic yield over time

Wiley Advanced Genetics Panelists 
Yuming Hu, PhD serves as the Editor-In-Chief for Advanced Genetics, which is a peer-reviewed, broad-scope, open-access journal dedicated to advancing gene-related research with a recently expanded scope. It includes not only human, animal, plant, and microbial genetics, genomics, and epigenomics, but also topics that employ genetic, omics technologies, bioinformatics, computational biology, and artificial intelligence as toolboxes for discovery and innovation. Dr. Hu received her B.Sc. and M.Sc. in Biotechnology from Wageningen University and her Ph.D. in Biochemistry and Biotechnology from Ghent University. She worked as a Research Assistant at the University of California, Davis, and completed a postdoctoral fellowship at Tsinghua University. She joined Wiley as a scientific editor in 2022. 

 

Nadav Ahituv, PhD is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Director of the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. His lab was one of the co-developers of massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, he pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.

 

Brandon Lê, PhD is a genetic epidemiologist deeply passionate about biomedical research and uncovering the genetic etiologies of rare human genetic disorders, as well as a science communicator experienced in translating findings from bench to bedside. He has worked in sickle cell disease (SCD), essential tremor (ET), epigenetic aging, glaucoma, and bipolar disorder (BPD), and his training is in genetic epidemiology, statistical genetics, and computational biology as applied to analyzing large biological datasets. He is currently a postdoctoral scholar at the Virginia Institute for Psychiatric and Behavioral Genetics (VIPBG) at Virginia Commonwealth University (VCU) in Richmond, VA investigating the genetic etiology of bipolar disorder. 

Panel Discussion Topics

The panelists introduce their backgrounds in plant molecular genetics, psychiatric genetics, functional genomics, gene therapy, and publishing.

A presidential symposium on science communication prompts discussion about making genetics more accessible to people outside the field.

The panel highlights the value of clear, audience-friendly language—for example, using “variant” rather than “mutation” when speaking to the public.

Panelists reflect on communicating genetics across different levels of expertise, including for conference attendees outside a session’s specific subfield.

A session on research beyond GWAS covers biobank studies, multi-omics and single-cell data calibration, false positives, machine-learning approaches to prioritizing genetic findings for drug discovery, and challenges in translating genetic discoveries into clinical trials.

AI is improving predictions of regulatory elements and variant effects, particularly in the non-coding genome. The panel sees promise in AI-assisted variant prioritization while emphasizing the need for human oversight.

Long-read sequencing and longer DNA synthesis may enable larger-scale genome engineering, high-throughput screening, and the study of combinatorial effects.

Publishing advice: write early and alongside experiments. Doing so can reveal missing controls, incomplete notes, or gaps in the research while they’re still easy to address.

Writing is a way of thinking, not just a way of documenting completed work.

For computational research, documenting tools, parameters, and steps as you work can provide a strong foundation for the methods section.

Sharing drafts with collaborators and readers from different backgrounds can improve clarity and help catch overlooked issues. Don’t wait for a perfect first draft before asking for feedback.

Panelists discuss longer publication timelines and the strain they can place on trainees, as well as the challenge of finding enough qualified peer reviewers.

Early-career researchers may be able to contribute to peer review, particularly with support from more experienced researchers.

The publishing perspective shared in the discussion allows AI for language editing, but not for generating scientific insights; the panel also raises concerns about the quality of AI-heavy review papers.

Authors can prepare for peer review by anticipating likely questions, addressing relevant alternative methods and analyses, and explaining limitations in the manuscript.

Starting early, outlining the paper, and acknowledging potential reviewer concerns can help strengthen submissions and make revisions more efficient.

 

ASHG 2026 Sessions & Events Mentioned

Wiley's Advanced Portfolio × DNA Today Brunch Discussion — Thursday, October 22. Moderated by Kira Dineen, featuring Yuming Hu, Nadav Ahituv, and Brandon Le. The event explored emerging genetics research, translating discoveries into therapies, and scientific collaboration.

Presidential Symposium: Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust — Wednesday, October 21, 4:30–6:15 PM. Featuring Susan A. Slaugenhaupt, Alex Dainis, Natalie (Talia) Stroud, and Roxanne Khamsi.

Nabsys CoLab: Electronic Genome Mapping in Hematologic Malignancies: Bridging Cytogenetics and Molecular Genomics — Thursday, October 22, 5:00–5:30 PM. Alka Chaubey, PhD, FACMG, Chief Medical and Genomics Office, Nabsys

The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges — Wednesday, October 21, 11:00 AM–12:00 PM.

Genetic Counselor Shared Interest Group Meetup on Wednesday, October 21, from 9:45–10:45 AM

Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem — Wednesday, October 21, 8:15–9:45 AM.

Presentation of ASHG Artificial Intelligence Initiative Report — Thursday, October 22, 9:45–10:45 AM.

Machine Learning-Driven Approaches to Variant Classification and Prioritization — Thursday, October 22, 8:15–9:45 AM.

EHR-Based Computational and AI Approaches in Clinical Genetics — Thursday, October 22, 1:30–2:30 PM.

Nabsys’ Resources 

Nabsys to Showcase Electronic Genome Mapping for Hematologic Malignancies at ASHG 2026

Nabsys Launches RepX™ for Repeat Expansion Analysis

Nabsys’ Presence at ASHG 

Electronic Genome Mapping Enables High-Resolution Cytogenomic Profiling of Hematologic Malignancies: A Proof-of-Principle Study

Nabsys’ Posters at ASHG 

Reviewers Choice Poster #5008F: CRISPR/Cas9 Optimization by Electronic Genome Mapping presented by John Thompson, PhD, Principal Scientist, Nabsys on Friday, October 23 from 2:30-4:30 PM EDT

Poster #8146T: Genome-Scale Mapping of Human LINE-1 ORF2p Endonuclease Activity presented by Michael Gallagher, PhD, Software Applications Scientist, Nabsys on Thursday, October 22 from 4:15-6:15 PM EDT

Poster #8132W: CRISPR/Cas9 Customization of Electronic Genome Mapping Repeat Expansion Assays presented by Kasra Tabatabaei, PhD, Application Scientist, Nabsys on Wednesday, October 21 from 2:30-4:30 PM EDT

Poster #2031T: CRISPR-Assisted Electronic Genome Mapping for Robertsonian Translocations and FSHD presented by Erika Headrick, MS, Software Product Manager, Nabsys on Thursday, October 22 from 4:15-6:15 PM EDT

Poster #2025F: Assessment of Structural and Copy Number Variants in Constitutional Samples Using Electronic Genome Mapping presented by Adam Smith, PhD, FCCMG, Clinical Laboratory Director, LabCorp on Friday, October 23 from 2:30-4:30 PM EDT

Poster #8133F: Detection of Leukemia-Associated Structural Variants Using Electronic Genome Mapping Technology presented by Annarueber Lozar, M.S., Scientist, Nabsys on Friday, October 23 from 2:30-4:30 PM EDT

Poster #2040F: Evaluation of the clinical utility of Electronic Genome Mapping Analysis in the detection of disease causing structural variants in rare genetic diseases presented by Dr. Kumiko Yanagi, National Center for Child Health and Development, Friday, October 23 from 2:30-4:30 PM EDT 

Publishing Resources: 

Wiley Advanced Portfolio 

Wiley’s Journal Finder

Genetics and Genomics: Advanced Science Collection 

Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections

Wiley's AI guidelines for Authors

What Makes a Successful Submission Wiley Blog Post

Eligibility for access to Research4Life 

Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences

Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

 

Relevant DNA Today Podcast Episodes:

#392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism

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

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

#231 ChatGPT and AI In Genetics with Daniel Uribe

#285 AI To Enhance Variant Curation with Daniel Uribe

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

#375 How Your Publication Can Fuel Genetic Innovation

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

#314 ASHG 2024 Recap

#412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer (AGBT-PH Coverage) 

#416 How Baby KJ Became the First Patient Treated With Personalized CRISPR (AGBT-PH Coverage)

 

Next Conference:
Next stop on our conference road trip is Baltimore, MD for the National Society of Genetic Counselors (NSGC) annual conference. We can’t wait to see you there! If you see Kira, say hi and she will give you a DNA Today sticker! 

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics.

In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations.

From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient.

Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment.

Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model.

This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation. 

Episode Discussion Topics:

The 2018 announcement of the world’s first CRISPR-edited babies in China

Why He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlash

The difference between editing embryos and germline cells versus editing somatic cells in a patient

What the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technology

How the field of CRISPR medicine has evolved since 2018

How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular disease

Using CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterol

The development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery disease

The possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatments

How cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiency

What CPS1 deficiency is and why it can become life-threatening shortly after birth

How Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatment

Why KJ’s specific genetic variant was a candidate for base editing

How base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNA

Developing a gene-editing therapy specifically for a single patient

Delivering the gene editor to liver cells using lipid nanoparticles

Why the liver is an especially promising target for in vivo gene-editing therapies

The collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possible

Navigating FDA review for a therapy that had never previously been given to a human

Why KJ received multiple doses of the therapy

Early signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medication

Why researchers are careful not to describe KJ’s treatment as a cure

The importance of long-term monitoring for both effectiveness and potential safety concerns

Evaluating off-target editing and other potential risks of personalized gene-editing therapies

Whether creating an individual therapy for a single patient can realistically become scalable

Moving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variants

How regulatory frameworks may need to evolve for personalized genetic medicines

Which other rare genetic diseases could potentially benefit from this approach

What Baby KJ’s story could mean for the future of precision medicine and gene editing

About Dr. Kiran Musunuru
Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center for Inherited Cardiovascular Disease, and Co-Director of the Penn Medicine/Children’s Hospital of Philadelphia Orphan Disease Center.

Dr. Musunuru is a practicing cardiologist and physician-scientist whose research focuses on using genetics and gene-editing technologies to develop new treatments for cardiovascular, metabolic, and rare genetic diseases.

He has also written extensively about the ethical and scientific implications of human genome editing, including the CRISPR babies controversy in his book The CRISPR Generation. 

Along with Dr. Rebecca Ahrens-Nicklas and a large multidisciplinary team, Dr. Musunuru helped lead the development of the world’s first personalized CRISPR gene-editing therapy for Baby KJ. Their work was published in The New England Journal of Medicine in 2025.

Baby KJ and Personalized Gene Editing
KJ Muldoon was born with severe CPS1 deficiency, a rare urea cycle disorder caused by pathogenic variants in the CPS1 gene. Without adequate CPS1 enzyme activity, the body cannot efficiently process nitrogen generated from protein metabolism, which can lead to dangerously high ammonia levels.

Researchers designed a customized CRISPR base-editing therapy targeting KJ’s specific disease-causing variant. The editor was delivered to the liver using lipid nanoparticles.

KJ received multiple infusions of the personalized therapy. Researchers have reported that he has been able to consume more dietary protein, requires less nitrogen-scavenging medication, and has demonstrated improved metabolic stability. Researchers continue to monitor KJ closely to understand the therapy’s long-term safety, durability, and clinical benefit.

Resources

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease

Musunuru K, et al. New England Journal of Medicine. Published May 2025.

The landmark publication describes the development and initial clinical results of KJ’s personalized base-editing therapy.

 The CRISPR Generation: The Story of the World’s First Gene-Edited Babies

By Kiran Musunuru examines the science and ethical failures surrounding the creation of the first CRISPR-edited babies and what the case means for the future of human genome editing.

“Chinese researcher claims first gene-edited babies” in the Associated Press

The original article broke the news that the Chinese scientist He Jiankui had used CRISPR to edit human embryos, resulting in the birth of the world’s first gene-edited babies. 

“In Vivo Base Editing of PCSK9 with VERVE-102 for Hypercholesterolemia”

Recent paper co-authored by Dr. Musunuru in The New England Journal of Medicine regarding people carrying loss-of-function variants of proprotein convertase subtilisin–kexin type 9 (PCSK9) have reduced levels of low-density lipoprotein (LDL) cholesterol and fewer atherosclerotic cardiovascular disease events than persons without such variants. VERVE-102 is an investigational base-editing therapy designed to durably inactivate PCSK9 in the liver.

Children’s Hospital of Philadelphia: The Future of Personalized Medicine is Here: KJ’s Story
Learn more about KJ, his family, and the multidisciplinary team that developed his personalized treatment.

Penn Medicine: World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy
Overview of the science behind the treatment and the collaboration required to bring it into the clinic.

Penn Medicine/CHOP Orphan Disease Center
Dr. Musunuru serves as Co-Director of the center, which works to advance research and therapeutic development for rare diseases.

AGBT Precision Health 
We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. 

The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. 

Relevant DNA Today Episodes
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 & #289 Part 2

Victoria Gray shares her experience living with sickle cell disease before becoming the first person treated with the CRISPR therapy that would later become Casgevy.

 

#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure

Joe Jackson shares his family’s effort to develop a personalized CRISPR therapy for his son William, who has Duchenne muscular dystrophy.

 

#198 CRISPR Ethics with Sam Sternberg

Dr. Sam Sternberg explores the scientific, ethical, and regulatory questions surrounding CRISPR gene editing.

 

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

Drs. Eric Green and Sarah Tishkoff join our host Kira Dineen for our annual recap and reflection on the biggest genetics/genomics advancements this year! Kira’s top pick was this story of Baby KJ. 

 

#399: PKU and the History of Newborn Screening

In the first installment of our PKU series, we explore how the condition helped launch newborn screening and why early diagnosis can dramatically change a child’s future.

#413 PKU Beyond the Diet: Food, Mental Health, and Daily Life

In the second installment of our PKU series, Dr. Jennifer Brown and her daughter Lillian Isabella explore the realities of PKU, from food and family life to mental health and independence. 

#412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

Dr. Diana Bianchi discusses unexpected maternal findings from prenatal cell-free DNA screening. This was also recorded in-person at AGBT Precision Health 2026. 

#141 Stan Crooke on Developing “n of 1” Treatments for Nano Rare Disease 

Biotech titan Dr. Stan Crooke, who developed 20+ drugs, shares about his new n-Lorem Foundation, which develops ASO treatment for conditions affecting less than 30 people in the world. 

#323 Supporting Ongoing Urea Cycle Disorder (UCD) Care

Two UCD experts, Holly Bernal and Laurie Bernstein, share how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs.

Connect with DNA Today: 
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States. 

In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology.

In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use.

This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families.

We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies.

Thank you to BridgeBio for sponsoring this episode.

Episode Discussion Topics

How the achondroplasia treatment landscape has evolved in the last seven years

How achondroplasia affects more than height

How current and investigational therapies target FGFR3 signaling in different ways

What annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trials

Key findings from the Phase 3 PROPEL 3 study of investigational infigratinib

What researchers can and cannot yet predict about final adult height based on current data

Why body proportionality may be an important clinical and functional outcome

How researchers are evaluating potential effects on mobility, reach, independence, and daily activities

The long-term safety questions that remain when treatment begins in childhood

Why results from separate achondroplasia trials should not be compared directly

How families and healthcare providers can weigh treatment benefits, risks, administration, and personal goals

What is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling

Our Guest: Dr. Ravi Savarirayan
Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). 

 

Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.

Resources

BridgeBio Achondroplasia Program
Learn more about achondroplasia, FGFR3 biology, and BridgeBio’s clinical development program evaluating infigratinib.

BridgeBio Achondroplasia Clinical Trials
Information about the PROPEL clinical trials for infigratinib. 

“Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia”
The article that Dr. Ravi mentioned in the episode that was published June 28, 2026 in The New England Journal of Medicine. 

Little People of America
A nonprofit organization offering community, education, advocacy, events, and resources for people with dwarfism and their families.

Relevant DNA Today Podcast Episodes
Episode 401: The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
Dr. Savarirayan first appearance on the show where he explains how the first approved precision treatment for achondroplasia works and discusses international consensus recommendations for counseling families, initiating treatment, monitoring outcomes, and considering when treatment may be discontinued.

Episode 386: Achondroplasia Beyond Height: Managing Lifelong Medical Needs
Dr. Ricki Carroll discusses the medical complications associated with achondroplasia, the importance of coordinated multidisciplinary care, and why lifelong management must address much more than linear growth.

Episode 359: Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains
Dr. Janet Legare reviews the genetics, diagnosis, clinical features, medical management, and family counseling considerations associated with achondroplasia.

Episode 301: Dwarfism with Colleen Gioffreda
Colleen Gioffreda shares her experience living with achondroplasia, raising children with achondroplasia, navigating healthcare, building community, and challenging misconceptions about dwarfism.

Episode 192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer
Actor Atticus Shaffer discusses living with osteogenesis imperfecta, growing up in the entertainment industry, misconceptions about genetic conditions and short stature, and what he wants healthcare professionals to understand.

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

When patients relocate or relatives living abroad need cascade testing, finding a qualified genetics professional in another country can be surprisingly difficult. The new Global Genetics Directory aims to change that through a free, verified, peer-to-peer resource connecting genetics and genomics professionals worldwide.

In this episode of DNA Today, recorded in person at our studio, host Kira Dineen is joined by genetic counselor Monisha Sebastin, Founder and Principal Investigator of the Global Genetics Directory. Monisha explains how her international background and leadership within the genetics community revealed the need for a centralized global resource.

We explore how the directory was developed with support from the prestigious Audrey Heimler Special Projects Award, how professionals are verified across different credentialing systems, and why the team chose a closed, consent-based model rather than a publicly searchable directory. Monisha also shares how the directory could strengthen cross-border patient care, cascade testing, professional collaboration, and access to genetics services around the world.

Episode Discussion Topics

Why finding genetics professionals in other countries can be challenging

How Monisha’s experiences in India and the United States shaped her perspective on global access

When international connections are especially important for patient care and cascade testing

What genetics professionals around the world said they needed from a global directory

How NSGC’s Audrey Heimler Special Projects Award supported the project

How registration, credential verification, and directory searches work

Why eligibility is limited to credentialed genetics and genomics professionals

How the directory accommodates differences in professional titles, credentials, and scopes of practice

Why membership is free

The benefits of a closed, peer-to-peer, and consent-based model

How patients seeking care abroad can work with their current providers

The team’s vision for expanding the directory and strengthening international collaboration

About Monisha Sebastin
Monisha Sebastin, MS, LCGC, is the Founder and Principal Investigator of the Global Genetics Directory. She is also a senior pediatric genetic counselor in New York City, where she specializes in cardiogenetics and research.

Monisha grew up in India and earned her undergraduate degree in genetic engineering before completing her genetic counseling training at Sarah Lawrence College. Her international background, clinical experience, and leadership within the global genetic counseling community helped inspire the development of the Global Genetics Directory.

The directory was developed with support from the Audrey Heimler Special Projects Award for Monisha’s project, “Evaluating International Genomics Providers’ Needs and Perspectives on a Global Genomics Services Directory.”

Resources & Links

Global Genetics Directory
To email directly, contact@globalgeneticsdirectory.com 

National Society of Genetic Counselors (NSGC)

NSGC’s Audrey Heimler Special Projects Award

Find A Genetic Counselor Directory 

Relevant DNA Today Podcast Episodes

#109 Shenela Lakhani on Genetic Counseling in Qatar — Hear from Qatar’s first certified genetic counselor about establishing the profession in a new country and adapting counseling across cultures.

#110 Gattaca, 22 Years Later with Catherine Mayo and Ale Cantu — Catherine Mayo’s first DNA Today appearance examines the film’s enduring relevance to genetic counseling, reproductive decision-making, and genetic discrimination.

#114 Matt Burgess on Australasian Genetic Counseling — Explore genetic counseling education, certification, private practice, and healthcare delivery in Australia and across the Australasian region.

#212 NSGC Recap 2022 — Meet Monisha and learn about the clinical care and compassion that earned her the Heart of Genetic Counseling Award, along with her work supporting international genetic counselors.

#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels — Learn how genetic counseling is practiced and taught in South Africa, including barriers to expanding services and differences between its public and private healthcare systems.

#259 NSGC 2023 Recap and Reflections with Catherine Mayo — Catherine Mayo returns to the show to discuss major themes and takeaways from the genetic counseling profession’s annual conference.

#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci — Meet the Global Genetics Directory’s web developer and site architect and hear how computer vision can support the diagnosis of genetic conditions.

#286 Qatar Genome Program with Dr. Said Ismail — Explore the Middle East’s largest population-based genome initiative and its work to improve the representation of Qatari and Arab populations in genomic research.

#311 Mock Cancer Genetic Counseling Session with Catherine Mayo — Hear Catherine Mayo demonstrate cancer risk assessment, genetic testing education, and patient-centered counseling in a simulated session.

#351 Mock Cardiac Genetic Counseling Session with Monisha Sebastin — Hear Monisha demonstrate her cardiogenetics expertise and counseling approach during a simulated session involving a family history of sudden death.

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel.

This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker.

This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future.

In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food.

Joining us are a mother and daughter who have experienced that journey together:

Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU.

Lillian Isabella is a playwright, advocate, and graduate student in Columbia University's Narrative Medicine program who served six years on the National PKU Alliance board and lives with PKU. She is Dr. Brown's daughter. 

Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. 

 

Episode Discussion Topics

What a “low-protein diet” actually requires for someone living with PKU

How protein and phenylalanine tolerance are determined and monitored over time

The work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foods

Dr. Brown’s experience learning to treat feeding her newborn as a form of medical care

Raising two daughters with PKU and balancing dietary management with everyday family life

Lillian’s relationship with PKU formula and medical shakes throughout different stages of life

How elevated phenylalanine levels can affect focus, energy, mood, and daily functioning

Navigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situations

When Lillian first became aware that she ate differently from her peers

How constant food monitoring can influence a person’s emotional relationship with eating

PKU-related frustration, burnout, anxiety, guilt, and resentment

How language used by clinicians can shape a child’s identity and relationship with their condition

Transitioning from parent-managed PKU care to greater independence in adolescence and adulthood

Returning to metabolic care after time away

Lillian’s experience turning her lived experience with PKU into advocacy

Advice for parents who have just learned their baby has PKU

How guidance and support may change through early childhood, adolescence, and adulthood

Dr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier

Resources & Links

When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer Brown

PKU / Phenylketonuria

Phenylalanine hydroxylase deficiency ACT Sheet

The Newborn Screening Information Center (NBSIC)

Recommended Uniform Screening Panel, or RUSP

RUSP overview for families

ACMG Newborn Screening ACT Sheets and Algorithms

Baby’s First Test: Newborn Screening Information

National PKU Alliance

Relevant DNA Today Podcast Episode
Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future.

 

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.