S3.18 Rare, Well Done: Progress and challenges in rare genetic disorders episode artwork

EPISODE · Aug 27, 2020 · 35 MIN

S3.18 Rare, Well Done: Progress and challenges in rare genetic disorders

from Genetics Unzipped · host Kat Arney

We take a look at the progress that’s been made in tackling rare genetic disorders (and the challenges that remain) and we hear from a prenatal genetic counsellor about how new tests are helping people carrying genetic variations make decisions about starting a family.With Dr Ron Jortner (founder and CEO of Masthead Biosciences and trustee of the Cambridge Rare Disease Network) and Genetic counsellor Kira Dineen.Full show notes, transcript, music credits and references online at GeneticsUnzipped.com.Follow us on Twitter @GeneticsUnzipGenetics Unzipped is written and presented by Kat Arney with audio production by Hannah Varrall.This podcast is produced by First Create the Media for the Genetics Society - one of the oldest learned societies in the world dedicated to supporting and promoting the research, teaching and application of genetics.

We take a look at the progress that’s been made in tackling rare genetic disorders (and the challenges that remain) and we hear from a prenatal genetic counsellor about how new tests are helping people carrying genetic variations make decisions about starting a family.

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S3.18 Rare, Well Done: Progress and challenges in rare genetic disorders

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Why are you, YOU? Subtitle: Human behind NAME Sava Bisarani Asalamu aleykum,"Why Are You, You?" is an engaging and thought-provoking podcast show that delves into the depths of human identity and the complex factors that shape who we are as individuals. Hosted by Sava Bisarani, this podcast explores the multifaceted nature of personal identity, uncovering the intricate interplay of genetics, upbringing, experiences, and societal influences."Why Are You, You?" an essential listen for those who are curious about the human condition and the mysteries of selfhood.Asalamu aleykum or in Kurdish: Xuwa legel! DNA Today: A Genetics Podcast Kira Dineen, Gene Pool Media Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner***Learn more (and stream all 380+ episodes) at DNAtoday.com. You can contact the show at [email protected] show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows.  US News | Science Discoveries US News & World Report Get the latest science news about the environment, genetics, animals, technology, archaeology and space. Big Biology BigBiology The biggest biology podcast for the biggest science and biology fans. Featuring in-depth discussions with scientists tackling the biggest questions in evolution, genetics, ecology, climate, neuroscience, diseases, the origins of life, psychology and more. If it's biological, groundbreaking, philosophical or mysterious you'll find it here. bigbiology.substack.com

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This episode was published on August 27, 2020.

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We take a look at the progress that’s been made in tackling rare genetic disorders (and the challenges that remain) and we hear from a prenatal genetic counsellor about how new tests are helping people carrying genetic variations make decisions...

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