The Genetics Podcast

In this week’s episode, Patrick is joined by Michelle Teng, ​​CEO and Co-Founder of Etcembly Ltd and Founding Executive Director and Chief Scientific Officer of SynaptixBio. Michelle explains how her team is training large language models (LLMs) to analyze immune system data and how the company’s Long Term Survivor Study is helping identify T-cell profiles associated with sustained cancer remission. She also speaks to her own experience of ultra-rare genetic disease.

In this episode, we welcome Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer. Eric and Patrick discuss facilitating efficient identification of potential drug targets and the role of artificial intelligence in genetics research and drug discovery. Please note that Eric has kindly shared some interesting research that was mentioned in the podcast. It is pasted at the end of the show notes.

In this episode, we’re joined by Noam Baumatz, CEO and Co-Founder of Noga Therapeutics, a company dedicated to developing gene therapies for rare and severe diseases through engineering macrophages. Motivated by his highly personal experience of rare disease, Noam founded Noga to develop the type of gene therapies his daughter was unable to access. He and Patrick discuss his work with parents and families affected by rare disease, the road to effective, financially accessible gene therapies, and Noam’s previous work in traditional Chinese medicine.

Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener of The Genetics Podcast, you may be familiar with Dr. Veera’s annual round-up episodes, and more recently, his quarterly appearances on the show. We’re pleased to bring you the latest quarterly roundup, during which Dr. Veera and Patrick walk through the most recent developments in genetics, drug discovery, and precision medicine. In this episode, Dr. Veera and Patrick dive into a wide variety of topics, including: - The evolution of skin color in humans - The potential of a novel tau isoform for Alzheimer’s treatment - Protective mechanisms of tomoregulin-1 against herpes simplex virus - The discovery of a new noncoding Mendelian disease mechanism linked to cardiac arrhythmias - A comparative analysis of whole genome versus whole exome sequencing for gene discovery. Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera. Additionally, we’re excited to invite you to an in-person meetup for The Genetics Podcast during the ASHG Annual Meeting in Denver, CO! Over the years, we’ve had the honor of speaking with leading voices across science, industry, patient advocacy, and policy. Now, we’re bringing this incredible community together face-to-face. Join us on the evening of Thursday, November 7. To RSVP, visit: https://lu.ma/geneticspodASHG.

In this episode, Patrick speaks with Mark Taylor, Head of Strategic Partnerships at LGC Group, about bridging the gap between genomics innovation and equitable healthcare. They discuss Mark's work with the National Institute for Health Research (NIHR), challenges in scaling precision therapies for the NHS, and strategies for engaging underrepresented populations. Additionally, we’re excited to invite you to an in-person meet up for The Genetics Podcast during the ASHG Annual Meeting in Denver, CO! Over the years, we’ve had the honor of speaking with leading voices across science, industry, patient advocacy, and policy. Now, we’re bringing this incredible community together face-to-face. Join us on the evening of Thursday, November 7. To RSVP, visit: https://lu.ma/geneticspodASHG.

Join us at our first in-person podcast event! We will be hosting a reception during the ASHG Annual Meeting in Denver, CO. The event will be held on the evening of Thursday 7 November. ​Please submit your information in this form (https://lu.ma/geneticspodASHG) to signify your interest in attending!

This week Patrick is joined by Paul Wille, Director of Product Development at Abeona Therapeutics. They discuss the use of adeno-associated virus (AAV) as a vector for gene therapy delivery, outline its limitations and benefits, and hone in its potential in the context of genetic eye disorders. Paul also shares his journey from academia to industry and emphasizes the importance of building on existing technologies to advance the field. Additionally, please consider joining us at our first in-person podcast event! We will be hosting a reception during the ASHG Annual Meeting in Denver, CO. The event will be held on the evening of Thursday 7 November. ​Please submit your information in this form (https://lu.ma/geneticspodASHG) to signify your interest in attending!

Dr. Mike Snyder, a pioneer in personalized medicine and Director of the Center for Genomics and Personalized Medicine at Stanford, discusses the revolutionary impact of wearable technologies on early disease detection. He shares insights on how proactive health monitoring can predict illnesses even before symptoms arise. The conversation also highlights the challenges of integrating advanced diagnostics into mainstream healthcare, emphasizing the importance of transitioning from reactive to preventive models, and the promise of AI in improving health outcomes.

This week, Patrick welcomes President and CEO of The Jackson Laboratory, Lon Cardon. They discuss the rise of genome-wide association studies (GWAS) and how they changed the face of genetics research and why Lon took the plunge and moved from academia to industry in an era when it was an unpopular choice. Plus, they cover the future of disease taxonomy and why data sharing remains vital to the field of genetics.

This week, we’re thrilled to welcome Nadav Ahituv, the Director of the Institute of Human Genetics at the University of California, San Francisco. Patrick and Nadav discuss his research on gene regulation, including his intriguing work on bats and their unique metabolic adaptations – and what that means for human health. They also discuss the evolution of our understanding of genetics, from ancient DNA insights to the mechanisms driving human traits, and how these discoveries could pave the way for future therapies.