Episodios

  • EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research

    EP 137: Mavis Machirori on promoting equity, diversity, and social justice in genomics research
    May 30 2024
    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!
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    42 m
  • EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson

    EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson
    May 23 2024
    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
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    41 m
  • EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm

    EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm
    May 16 2024
    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!
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    41 m
  • EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today

    EP 134: Prenatal genetic testing and the future of AI in genetic counselling with Kira Dineen, host of DNA Today
    May 9 2024
    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!
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    41 m
  • EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern

    EP 133: Insights into pharmacogenomics and increasing diversity in genomics research with Dr. Emma Magavern
    May 2 2024
    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!
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    39 m
  • EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church

    EP 132: From mammoths to genome editing, trailblazing genetics with Dr. George Church
    Apr 25 2024
    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!
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    48 m
  • EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens

    EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens
    Apr 18 2024
    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!
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    45 m
  • EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal

    EP 130: Quarterly insights into noncoding variants and GWAS with Dr. Veera Rajagopal
    Apr 11 2024
    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.
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    52 m