Episodios

  • EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University

    EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University
    Jul 4 2024
    This week, we welcome Lori Orlando, Associate Professor of Medicine and Director of the Precision Medicine Program in the Center for Applied Genomics and Precision Medicine at Duke University. Lori discusses her work as a health services researcher, the MeTree family health history platform, and how she and her team are working to develop a sustainable model for bringing genomic medicine into primary care.
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    43 m
  • EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre

    EP 140: The future of Electronic Health Records and data analysis with Ben Goldacre
    Jun 27 2024
    This week, we’re joined by Ben Goldacre, a renowned doctor, academic, author, and journalist. His books include “Bad Science” and “Bad Pharma,” among others, and he is currently a Professor of Evidence-Based Medicine at University of Oxford. There, he runs the Bennett Institute for Applied Data Science which aims to pioneer the better use of data, evidence and digital tools in healthcare and policy. Patrick and Ben discuss Join Patrick and Ben for an open conversation about Ben’s choice to step back from the public eye and the power of the OpenSAFELY platform to improve security, transparency and analysis of Electronic Health Records.
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    53 m
  • EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering

    EP 139: Rare disease breakthroughs using tRNA with Michelle Werner, CEO of Alltrna and CEO-Partner of Flagship Pioneering
    Jun 20 2024
    This week, we welcome Michelle Werner, CEO of Alltrna and CEO/Partner at Flagship Pioneering. Michelle and her team are working at the cutting-edge of tRNA therapies, which they hope will present a scalable treatment method for people in the rare and ultra-rare disease communities. Join Patrick and Michelle for an exciting conversation about this breakthrough technology, from the transferable potential of this new modality across stop codon diseases, to Michelle’s personal passion for delivering workable solutions to the rare disease community.
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    45 m
  • EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken

    EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken
    Jun 6 2024
    In this episode, we welcome Dr. Almut Heinken, Junior Professor at the INSERM Institute of Nutrition, Genetics, Environment, and Risk Exposure at Université de Lorraine. Her work focuses on multiscale metabolic modelling of host-microbiome interactions and their role in human health. She has contributed to the development of genome-scale reconstructions of human microbes, known as the AGORA resource. Almut has also developed tools to build personalised microbiome models and applied these models to inflammatory bowel disease, Parkinson’s Disease, and colorectal cancer. She is currently working on modelling the interactions between diet, the microbiome, and the epigenome. Tune in to this exciting discussion!
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    40 m
  • 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