This week on The Genetics Podcast, we’re joined by Hilary Martin, Group Leader in Human Genetics at the world-renowned Wellcome Sanger Institute. Hilary and Patrick discuss her group’s work on neurodevelopmental conditions, the role of common genetic variants in rare disease, and how to untangle the impact of direct and indirect genetic influences on various traits.

Find out more

Nature paper: Examining the role of common variants in rare neurodevelopmental conditions

https://www.nature.com/articles/s41586-024-08217-y

Genes and Health Project

https://www.genesandhealth.org

Happy New Year! In our first episode of 2025, Patrick is joined by Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences. Erik is also the formerr Senior Vice President of Target Discovery at GlaxoSmithKline and a former Professor at Stanford and Uppsala universities. Patrick and Erik discuss Wave’s world-first discovery in RNA editing therapies for Alpha-1 Antitrypsin Deficiency (AATD), Erik’s far-reaching career across academia, big pharma and biotech, and how to be a present parent in the thick of a thriving career.

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, you may be familiar with Veera’s quarterly appearances on the show, where Patrick and he discuss the latest developments in genetics, drug discovery, and precision medicine. Grab yourself a cup of something warm and tune in as Veera and Patrick close out 2024 with a wrap up covering:

Population genomics programs

New Alzheimer’s research

The impact of genetics on menopause onset

Newborn genetic screening

Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.

This week we’re joined by Eric Green, Founder and CEO of Trace Neuroscience, Co-Founder and Chief Scientific Officer at Maze Therapeutics, and Adjunct Clinical Assistant Professor at Stanford University School of Medicine. Eric and Patrick discuss Eric’s transition from cardiology to the world of entrepreneurship, the role of highly focused biotechs in creating precision therapies, and the development of high-impact gene therapies for people with amyotrophic lateral sclerosis (ALS).

In this episode, we’re joined by Dr. Ness Bermingham, Operating Partner at Khosla Ventures and Chair of the Board at Korro Bio. A scientist-turned-biotech entrepreneur, Ness is passionate about the power of science to tackle some of healthcare’s biggest challenges.

Ness co-founded Intellia Therapeutics, a leader in CRISPR gene editing, and Korro Bio, an innovator in RNA editing, driving breakthroughs that translate cutting-edge science into real healthcare solutions. With over 20 years of experience in biotech and healthcare, he’s played a vital role in shaping startups into companies that develop life-changing medicines.

Tune in as we dive into Ness’s journey and his insights on innovation in biotech!

Welcome back to The Genetics Podcast! Today, we’re joined by Dr. Luis Diaz, Head of the Division of Solid Tumor Oncology at Memorial Sloan Kettering and a White House Appointee to the National Cancer Advisory Board. Dr. Diaz’s career has been defined by his commitment to translating cutting-edge cancer genomics into clinical practice.

In this episode, he and Patrick dive into his groundbreaking trial on mismatch repair (MMR)-deficient rectal cancer, along with his pioneering work on liquid biopsies, immunotherapies targeting tumors with microsatellite instability, and advancements in precision oncology.

To learn more about Dr. Diaz and his work, visit his research page here: https://www.mskcc.org/research-areas/labs/luis-diaz.

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.