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.