The Genetics Podcast

Zornitza Stark, clinical geneticist and translational genomics leader at the University of Melbourne, talks genomic newborn screening and rapid sequencing. She describes the BabyScreen+ pilot, scaling challenges like automation and AI for variant curation, family-wide cascade testing and psychosocial needs, gene-selection criteria, equity and representativeness concerns, and the infrastructure and policy needed for national programs.

Join Michelle Werner, CEO of Alltrna, who focuses on engineered tRNA therapeutics for rare genetic diseases, and Mike Severino, CEO of Tessera Therapeutics, specializing in RNA-based gene-writing platforms. They discuss how 2026 is a pivotal year for clinical trials, share groundbreaking preclinical results, and explore innovative strategies for addressing genetic mutations. The duo also highlights the importance of patient advocacy and the adaptability of their platforms to tackle various genetic disorders, marking a promising future in genetic medicine.

This week on The Genetics Podcast, Patrick is joined by Dr. Travis Hinson, Professor and physician at the University of Connecticut and investigator at the Jackson Laboratory. They discuss how genetics is reshaping the understanding of heart failure, why sarcomere biology has become a central target for new gene-based therapies, and how advances in genome editing and preventive genetics could redefine cardiovascular care.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Travis01:44 Overview of gene editing for inherited cardiovascular disease05:01 Delivery methods and viral capsid engineering to target heart tissue07:29 Role of the titin gene in dilated cardiomyopathy and treatment opportunities10:32 Genetic variants in titin and differences in phenotype13:51 Promising therapeutic approaches for targeting titin 16:21 Possibility of using a mini titin gene for replacement17:31 Sarcomere proteins and their role in cardiomyopathy20:28 Limits of current understanding in heart failure, including cardiac regeneration and congenital heart disease24:50 Predicting drug-induced cardiotoxicity using stem cell models, animal studies, and digital twins30:02 How Travis balances clinical genetics at the University of Connecticut with translational research at the Jackson Laboratory (JAX)32:03 Where genetic testing is used in cardiology today and what’s limiting broader access35:19 Understanding polygenic risk and unexplained heritability in cardiovascular disease37:07 Managing inherited cardiomyopathy risk in families after a pathogenic variant is identified40:36 Genetic testing as a prevention strategy and the public health case for earlier intervention43:03 Balancing early genetic screening with penetrance, uncertainty, and patient anxiety45:51 Closing remarksFind out more:Review on cardiovascular gene editing approaches Please consider rating and reviewing us on your chosen podcast listening platform! 

This week on The Genetics Podcast, Patrick is joined by Dr. Beth Shapiro, Chief Science Officer at Colossal Biosciences. They discuss her path into ancient DNA and evolutionary genetics, how advances in genome engineering are reshaping de-extinction and conservation science, and why restoring lost ecological functions could transform the future of biodiversity.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Beth01:43 Beth’s path from journalism to ancient DNA research04:46 Beth’s first project on American bison and near extinction08:26 How Beth worked on a dodo sample at Oxford and what ancient DNA could reveal11:09 How de-extinction entered the field and why resurrecting species became a scientific goal14:54 Why de-extinction efforts could strengthen ecosystems and accelerate species conservation18:33 How cloning a mammoth works and why genome engineering replaces traditional cloning25:05 Understanding the genome of a woolly mammoth28:06 What functional de-extinction means in practice30:55 Genetic clues behind the woolly mammoth’s coat33:25 The technical hurdles behind de-extinction38:23 Building a stepwise path to de-extinction through near-term conservation tools39:36 Ethics risk management and working with local and Indigenous communities in de-extinction projects44:59 Scientific and technological breakthroughs needed over the next decade to make de-extinction and biodiversity preservation viable49:20 Closing remarksFind out more:Colossal Biosciences (https://colossal.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

This week on The Genetics Podcast, Patrick is joined by Dr. Graham Dempsey, CEO and co-founder of Quiver Bioscience. They discuss Graham’s path into neuroscience and biotech, how Quiver is building genetically validated programs in pain and neurodevelopmental disorders, and what recent advances in RNA-based therapies could mean for the future of neurological disease.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Graham01:29 The motivations and mission driving Quiver Bioscience04:34 Quiver’s approach to targeting the brain for neurological disease06:58 Nav1.7 as a lead pain program and the mechanisms of pain signaling12:11 Patient population and unmet need in chronic pain 13:37 The Dup15q neurodevelopmental program and recent clinical progress17:29 How the company chooses which diseases to pursue and why genetically validated pain and epilepsy programs lead the pipeline20:10 Modeling pain in a dish and how cellular electrophysiology reveals disease and drug effects27:42 Lessons from building a biotech company29:53 Today’s biotech climate and why Graham is optimistic 31:56 Emerging delivery technologies that could unlock the next wave of oligonucleotide therapies33:51 How molecular shuttles cross the blood–brain barrier and the advantage of a dual target approach37:05 Graham’s path from aspiring sports medicine doctor to building light-based platforms in neuroscience40:15 Graham’s early exposure to biotech leadership and a formative encounter with Roy Vagelos42:09 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! Find out more:Quiver Bioscience (https://www.quiverbioscience.com/)

This week on The Genetics Podcast, Patrick is joined by Dr. Arabella Bouzigues, Coordinator of the Genetic Frontotemporal Dementia Initiative (GENFI) and postdoctoral researcher. They discuss the scale and structure of GENFI as a global collaboration and what longitudinal data is revealing about genetics and biomarkers in frontotemporal dementia.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Arabella 01:30 Background and structure of the Genetic Frontotemporal Initiative (GENFI) consortium02:48 Scale of the GENFI cohort and the breadth of longitudinal data collected06:06 Clinical signs and progression of frontotemporal dementia (FTD) 10:08 How genetic variants map onto different clinical forms of frontotemporal dementia12:11 Biomarkers in genetic FTD and the challenge of separating neurodegeneration from lifelong brain differences19:36 Mutation-specific cortical microstructure patterns in FTD and what MRI reveals at the earliest stages23:04 Why combining genetics imaging fluid and digital biomarkers is essential for early detection and trials in FTD25:39 How the GENFI consortium is run across more than 50 sites worldwide30:42 How urgency and unmet need drive strong collaboration in the FTD community33:11 Promising developments in FTD therapeutics36:39 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_linkFind out more: GENFI (https://www.genfi.org/)

This week on The Genetics Podcast, Patrick is joined by Dr. Krishna Aragam, Section Head of Cardiovascular Genomics and Precision Medicine at the Cleveland Clinic. They discuss Krishna’s early experiences in population research and how they shaped his approach to genetics, the major discoveries transforming cardiovascular genomics from monogenic to polygenic risk, and how new insights into heart failure and population-specific variants are redefining the future of clinical care.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Krishna 01:40 How a gap year in India deepened Krishna’s interest in health and population genomics06:16 Key advances that reshaped cardiovascular genomics from rare variants to polygenic risk09:18 Where cardiovascular genomics stands today across coronary disease, cardiomyopathies, and arrhythmias14:25 Factors that make heart failure challenging for genomics 17:32 How monogenic variants and polygenic load shape risk in dilated cardiomyopathy23:03 What genetics reveals about the roots of heart failure and why precise phenotypes matter26:12 Using genetic risk to guide earlier treatment and prevent progression to heart failure30:37 Subclinical markers and imaging strategies to track progression toward heart failure32:04 Key research findings on an ancestry-specific genetic driver of dilated cardiomyopathy41:21 Genetic signals highlighting the role of inflammation in coronary artery disease43:11 Building a clinical genomics engine that connects discovery to cardiovascular care47:14 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_linkFind out more: Genetic variants underlying DCM: https://pmc.ncbi.nlm.nih.gov/articles/PMC11631752/ Ancestry-specific CD36 study: https://www.nature.com/articles/s41588-025-02372-2

Summary: This week on The Genetics Podcast, Patrick is joined by Lisa Gurry, Chief Business Officer of GeneDx. They discuss her path from two decades at Microsoft to leading one of the most influential genomics companies, GeneDx’s mission to deliver the fastest rare disease diagnoses, and how large-scale data, newborn screening, and AI are shaping the future of precision medicine.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Lisa and her career path leading to joining GeneDx  03:27 The core components of GeneDx and how they drive early rare disease diagnosis06:18 Insights from early genomic newborn screening pilots11:37 The clinical impact and economic benefits of newborn genomic screening14:27 How GeneDx combines data, AI, and clinical expertise to improve genomic interpretation17:44 A vision for a lifelong genomic passport and how it could guide care across every stage of life20:42 How GeneDx Infinity is unlocking new therapeutic possibilities in genetically linked autism22:48 How advocacy communities guide patient identification and connect families to opportunities26:00 Lessons from 23 years at Microsoft that Lisa now applies to leading GeneDx30:39 How Truveta emerged from the COVID crisis to build a shared-data platform for population-scale health insights32:13 What excites Lisa most about leading GeneDx and where she sees the biggest opportunities ahead34:59 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

 This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Chamberlain, Professor at the University of Washington School of Medicine, co-founder of Kinea Bio, and Director of the Muscular Dystrophy Cooperative Research Center of Seattle. They discuss the early breakthroughs that revealed the structure and function of the dystrophin gene, how those insights led to the creation of micro-dystrophin and systemic AAV delivery in Duchenne, and the major scientific and clinical challenges the field must now solve.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Jeffrey01:33 Early discovery of the dystrophin gene and how it shaped Duchenne muscular dystrophy (DMD) research09:07 Efforts to map dystrophin and develop practical diagnostic techniques12:04 How research in Jeffrey’s lab gradually led to the creation of micro-dystrophin 20:15 How micro-dystrophin and AAV delivery converged into a viable systemic gene therapy strategy27:23 Current successes and safety challenges in systemic AAV gene therapy for neuromuscular disease34:44 Prospects and limitations of gene editing for Duchenne and emerging alternatives to AAV micro-dystrophin44:57 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

Summary: This week on The Genetics Podcast, Patrick is joined by Dr. Rachel Salzman, CEO of Armatus Bio. They discuss the promise of vectorized RNAi for autosomal dominant diseases, the key scientific and clinical hurdles in gene therapy, and Rachel’s lessons from two decades in the field.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Rachel01:35 Background of Armatus Bio and the mechanism behind its vectorized RNAi platform05:31 Advantages of vectorized RNAi over conventional RNAi approaches08:07 How microRNAs work and how engineered versions enable highly specific gene silencing10:28 Current preclinical progress at Armatus and next steps toward first-in-human trials14:06 Lessons on making smart risk decisions in rare disease drug development17:26 Reflections on two decades of progress, setbacks, and realities in gene therapy22:07 Hemophilia as a case study in gene therapy missteps and overlooked patient and market realities25:21 Challenges around product purity and the need for financial innovation29:23 Why AAV purity is so difficult to achieve and where pre-competitive collaboration could drive improvement33:32 Rachel’s path from veterinary medicine to gene therapy through a family genetic diagnosis35:58 Founding the Stop ALD Foundation and advancing lentiviral gene therapy into first-in-human use39:58 The future potential of vectorized RNAi 42:00 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link