The Genetics Podcast

Dr. Luis Diaz, Co-founder and CEO of DeepMind, discusses groundbreaking advances in immunotherapy for MMR-deficient rectal cancer, highlighting a 100% tumor regression rate without chemotherapy or surgery. He delves into the marriage between cancer genomics and immunotherapy, explores the implications of FDA approvals for checkpoint inhibitors, and unveils the game-changing potential of liquid biopsies for non-invasive cancer detection. Diaz also shares insights on improving early detection using machine learning, with transformative applications beyond oncology.

On this week’s episode, we’re joined by Susan Liebman, Research Professor at University of Nevada, Reno School of Medicine and author of a new family memoir rooted in genetics called The Dressmaker’s Mirror. Susan reflects on the deeply personal loss of her niece to an undiagnosed genetic condition, offers her insights on genetic screening for at-risk individuals and populations, and provides valuable advice for early career scientists.

Summary: This week, Patrick is joined by Jim Wilson, Professor of Human Genetics at the University of Edinburgh. Jim discusses the genetics of isolated populations and the Vikings Genes project, which has led him to work with communities from more than 25 Scottish islands, and how new sequencing programs can dramatically improve health outcomes for these groups. He also touches on mapping Prince William’s mitochondrial DNA, lobbying Westminster to raise awareness of genetic screening, and his Irish Film & Television Awards (IFTA) winning work with the Irish Traveller community.

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!