S6.04: The diagnostic odyssey: A journey into genetic testing for rare diseases

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)Full show notes, transcript and references online at GeneticsUnzipped.com Follow us on Twitter @GeneticsUnzipThis episode of Genetics Unzipped was written and presented by Kat Arney with audio production by Emma Werner and Sally Le Page.This podcast is produced by First Create the Media for the Genetics Society - one of the oldest learned societies dedicated to promoting research, training, teaching and public engagement in all areas of genetics.

What this episode covers

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 and new approaches for treatment.

NOW PLAYING

0:00 38:22

1×

No transcript for this episode yet

We transcribe on demand. Request one and we'll notify you when it's ready — usually under 10 minutes.

Share this episode

Similar Episodes

Growing grass for sheep, stadiums and everything in between with George Fell

Jun 21, 2026 ·45m

#399 How PKU Changed Newborn Screening Forever

Jun 19, 2026 ·40m

263: You Are Not Alone: The Story Behind the Hopeful Mama Foundation

Jun 17, 2026 ·43m

Cocaine is in Our Waterways. How are Animals Responding?

Jun 17, 2026 ·25m

Turning grass into money - this time with cattle, with Joe Kerin

Jun 14, 2026 ·47m

#398 Soil Microbiomes, Plant Genetics, and Groundswell with Nikki Reed and Rebecca Tickell

Jun 12, 2026 ·29m

Similar Podcasts

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

Frequently Asked Questions

How long is this episode of Genetics Unzipped?

This episode is 38 minutes long.

When was this Genetics Unzipped episode published?

This episode was published on February 23, 2023.

What is this episode about?

Can I download this Genetics Unzipped episode?

Yes, you can download this episode by clicking the download button on the episode player, or subscribe to the podcast in your preferred podcast app for automatic downloads.

URL copied to clipboard!