Catch Me If You Can: Sequencing Screens for Rare Disease Genes

Rare diseases often remain undiagnosed due to unknown etiologies. In recent years, researchers have made headway in characterizing the molecular causes of rare diseases thanks to progressively powerful sequencing technologies, such as whole genome and exome sequencing. In this episode, Deanna MacNeil from The Scientist spoke with medical geneticist and chair of the department of pediatrics at Boston Children's Hospital, Wendy Chung, to learn how the rare disease field has evolved alongside advances in next generation sequencing. More on this topic The Sequencing Revolution Scans of Sundry Variant Types Uncover Autism-Linked Genes The Scientist Speaks is a podcast produced by The Scientist’s Creative Services Team. Our podcast is by scientists and for scientists. We bring you the stories behind news-worthy molecular biology research. This month’s episode is sponsored by Velsera.

You can listen to Catch Me If You Can: Sequencing Screens for Rare Disease Genes online on Radio and Podcast. Open the player on this page to stream the available audio.

Catch Me If You Can: Sequencing Screens for Rare Disease Genes is an episode from The Scientist Speaks by thescientistspeaks.

This episode is 17:33 long.

This episode was published on Jul 31, 2024.

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