The Genetics Podcast

Join us in welcoming Mavis Machirori, Senior Researcher at the Ada Lovelace Institute and co-founder of Genetics Engage (https://www.geneticsengage.org/)! With over 10 years of clinical experience as a midwife, Mavis is dedicated to promoting social justice in healthcare. Her research focuses on the impact of new healthcare technologies on social inequalities. Passionate about equity in data and genomics, she addresses the broader societal impacts of these advancements. Mavis was a guest on our Participant Diversity webinar in 2020, and we are thrilled to have her back on The Genetics Podcast at Sano!

Join us in welcoming back a familiar voice, Allison Watson, to The Genetics Podcast. We first spoke to Allison on the podcast back in October 2019 about her work in ring chromosome 20 syndrome (also known as r(20) syndrome). Allison is the Co-founder and CEO of Ring 20 Research and Support UK CIO, a patient advocacy organisation focused on awareness and research for ultra rare r(20) syndrome epilepsy. Tune in as she tells us about developments in the advocacy space for r(20) syndrome over the past four years and landmark moments for research into the condition.v

Welcome to Episode 135 of The Genetics Podcast, where we welcome Dr. Ingrid Holm, an Associate in Medicine at Boston Children’s Hospital and a Professor of Pediatrics at Harvard Medical School. Ingrid is passionate about integrating newborn screening programs to healthcare systems. She was the co-investigator on the original BabySeq study and is now co-leading a new study — BabySeq2: Bringing equity to genomic sequencing in newborns. She also leads pioneering work in a range of other paediatric projects, all of which we discuss in this episode!

In episode 134, we welcome fellow genetics podcaster Kira Dineen. Kira is most widely known for her award winning podcast, DNA Today, as well as producing a number of other health and science podcasts. Now running for more than 10 years, DNA Today is the winner of the 2020, 2021, and 2022 Best Science and Medicine Podcast Awards. When not podcasting, Kira works as a Prenatal Genetic Counsellor at Maternal Foetal Care in Connecticut where she supports patients with high-risk pregnancies, and is a certified Cytogenetic Technologist. Tune in for a very interesting episode!

Join us as we welcome Dr. Emma Magavern to The Genetics Podcast! In addition to being a medical doctor with an English Literature degree, Dr. Magovern is a Clinical Research Fellow at the Centre of Clinical Pharmacology and Precision Medicine at Queen Mary, Barts, and the London School of Medicine and Dentistry. Emma also works closely with East London Genes and Health, a program dedicated to increasing engagement in a community that is underrepresented in research. Most recently, she published a paper looking at pharmacogenomics in a British South Asian population. Tune in to this interesting episode!

In this episode, we are excited to welcome George Church, Professor at Harvard Medical School and MIT, and Co-founder of Eugit Therapeutics, Colossal Biosciences, Arrived AI, and eGenesis. He is also the Director of PersonalGenomes.org, the world's only open-access information hub for human genomic, environmental, and trait data, as well as an IARPA BRAIN Project and the NIH Center for Excellence in Genomic Science. If that weren’t enough, George was named one of the 100 most influential people in the world in Time Magazine’s 2017 Time 100 list. In 2022, he was featured among the most influential people in biopharma by FiercePharma, where he was listed among the top 8 most famous geneticists in human history. All to say, you won’t want to miss this episode with a genetics superstar!

In this episode, we welcome Jake Rubens, a seasoned genomic science entrepreneur and co-founder of Quotient Therapeutics. Tune in to hear Jake discuss the potential of somatic genomics (genes that are present in any cell in the body except for germline cells) in therapeutic development. As the founder of several companies, including Tessera and Sana Therapeutics, Jake offers his unique perspective on the advantages of utilising insights from somatic genome sequencing to understand disease mechanisms and discover new drug targets. He also shares valuable lessons from his robust entrepreneurial journey!

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 are likely familiar with Dr. Veera’s annual round-up episodes. This year, we are excited to announce quarterly episodes with Dr. Veera, where he and Patrick walk you through the latest developments in genetics, drug discovery, and precision medicine throughout the year.​​ This quarter’s episode will focus on non-coding variants and the future of genome-wide association studies (GWAS). Tune in now, and don’t forget to check out Veera’s substack, GWAS Stories, and his Twitter, @doctorveera.

In this episode, Patrick welcomes Jean Swidler, the Founder, Executive Director, and Chair of End the Legacy. End the Legacy is a patient-led organization dedicated to articulating and supporting the needs and interests of the genetic ALS and FTD communities. If you are interested in patient advocacy or keen on learning about recent therapeutic developments for those with neurodegenerative conditions, you will want to listen to this episode!

Join us as we welcome two familiar faces, Dr. James Beck, Chief Scientific Officer at Parkinson's Foundation, and Dr. Ignacio “Nacho” Mata, Professor at the Cleveland Clinic and Coordinator of the Latin America Research consortium on the Genetics of PD (LARGE-PD). This pair first appeared on Episode 69 of The Genetics Podcast in September 2021 to discuss the genetics of Parkinson’s disease (PD) and the future of precision medicine. Nearly 60 episodes later, Drs. Beck and Mata are back to walk us through updates in the field of PD and precision medicine, increasing diversity in genetic studies, and the potential for prediction and prevention of PD. You won’t want to miss this insightful episode featuring two of the preeminent experts in Parkinson’s disease and precision medicine.

In this episode, Patrick is joined by Dr. Mazen Noureddin, Professor of Medicine and Transplant Hepatologist at Houston Methodist Hospital. Mazen also leads the Houston Research Institute and Houston Liver Institute, and he previously established the Fatty Liver Program at Cedars-Sinai. Known internationally for his expertise in non-invasive testing and biomarkers for metabolic dysfunction-associated steatohepatitis (MASH, previously known as non-alcoholic steatohepatitis or NASH) and cirrhosis, Mazen has been involved in over 40 clinical studies exploring new treatments for MASH. Don’t miss out on this insightful episode!

In this episode, we welcome Julia Taravella, Executive Director of Rare Trait Hope Fund. She founded the organisation 11 years ago when her two children were diagnosed with aspartylglucosaminuria (AGU), an ultra-rare, autosomal recessive, and fatal neurodevelopmental disease. Tune in to learn about her goals for developing a gene therapy cure for the disease, her experiences as a mother raising two children with a terminal illness, and upcoming research developments for AGU.

This week, we’re joined by Lord James O’Shaughnessy, Member of the House of Lords (UK), and Senior Partner at Newmarket Strategy. In May 2023, Lord O’Shaughnessy led and published a government-commissioned review into the UK clinical trials process, producing key recommendations for policy improvements in R&D innovation. He and Patrick discuss his experience as the Minister in charge of leading the National Health Service through Brexit, and the fundamental importance of integrating R&D into the healthcare system.

On Rare Disease Day, we’re joined by John Matthews, Chief Medical Officer at ReCode Therapeutics. John and Patrick discuss how ReCode is using lipid nanoparticle technologies to revolutionise delivery of novel mRNA and gene correction therapies to Primary Ciliary Dyskinesia (PCD) and cystic fibrosis patients. Listen in to find out how ReCode and Sano are collaborating to offer eligible patients free genetic testing to better understand the mechanisms behind DNAI1-related PCD, and much more. See here: https://thinkpcd.com/

This week we’re joined by Holly Peay, Senior Research Scientist in Bioethics and Genetic Counseling at the Research Triangle Institute (RTI), and Director of the pioneering Early Check Study. Holly and Patrick discuss the Early Check programme, which is offering whole genome screening to newborns and has successfully screened 1,100 babies to date. They talk about the ethical challenges raised by comprehensive newborn screening, the intersection of bioethics, genetics, and genomics, and how to approach healthcare decisions against a backdrop of complex phenotypes and multiple risk factors.

This week, we deep-dive into the world of genome engineering and yeast organisms with Leslie Mitchell. She’s the Co-founder and CEO of Neochromosome, a synthetic biology company specialising in whole chromosome delivery and highly automated synthesis of complex DNA. Leslie, one of the minds behind the trailblazing Synthetic Yeast Genome Project, discusses the technology behind synthetic chromosome engineering, describes its potential applications, and addresses the challenges of scalability. Listen in as Patrick and Leslie discuss the processes behind chromosome engineering and the impact it could have on the world of gene therapies.

Welcome to this episode of The Genetics Podcast as we host Dr. Michael Benatar, a preeminent figure in the fight against Amyotrophic Lateral Sclerosis (ALS). Michael is a Professor of Neurology, the Chief of the Neuromuscular Division, and the Executive Director of the ALS Center at the University of Miami's Miller School of Medicine. Tune in as he and Patrick discuss research and treatment for presymptomatic gene carriers and other people at risk for ALS, as well as the future of ALS research.

In this episode, we welcome Dr. Nicole Paulk, CEO and Founder of Siren Biotechnology and former professor at University of California at San Francisco (UCSF). Dr. Paulk's journey from academia to the forefront of industry innovation offers a unique perspective into gene therapy and adeno-associated viruses (AAVs). Join us as we explore the futuristic applications of gene editing!

This week we’re joined by the Director of the Neuroscience Data Science: Discovery & Molecular Group at Johnson and Johnson, and Chair of the UKBiobank Pharma Proteomics Project (UKB-PPP), Chris Whelan. Chris helps lead the UKB-PPP, a project which aims to revolutionise biomarker discovery through tying together genetic and proteomic data and which has so far gathered more than 50k biological samples. Tune in as Patrick and he discuss how proteomics could change the future of drug discovery in neurology and beyond.

Join Patrick as he welcomes Dr. Matt Nelson, an influential voice in the field of genetics and drug development. Matt is currently the Vice President of Genetics and Genomics at Deerfield Discovery, as well as the CEO of Genscience. Prior to his current roles, Matt spent 15 years at GlaskoSmithKline (GSK) as a Principal Scientific Investigator and the Head of Genetics. Tune in for an interesting discussion on how genetic data has shaped drug discovery and development over the past decade, and what is needed for the next great leap forward.