Genetics Unzipped: The diagnostic odyssey: A journey into genetic testing for rare diseases
Posted by Kat Arney, on 23 February 2023
It’s very difficult to know about all rare conditions, but it’s not difficult to know about rare conditions as a kind of collective, and we need to have some better awareness about how healthcare professionals can support their patients when they do present with one.
Natalie Frankish, Genetics Alliance UK
In the latest episode of the Genetics Unzipped podcast, we’re off on a journey to the world of rare genetic disorders, exploring the diagnostic odyssey that patients go on in search of answers, research into variants of unknown significance and new approaches for treating the rare disease Aicardi-Goutières Syndrome (AGS).
Genetics Unzipped is the podcast from The Genetics Society. Full transcript, links and references available online at GeneticsUnzipped.com.
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