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 @GeneticsUnzip

Genetics 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.

S3.18 Rare, Well Done: Progress and challenges in rare genetic disorders 35:22 Share

Genetics Unzipped

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