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Rare Disease and the Diagnostic Odyssey

The Illumina Genomics Podcast

Rare Disease and the Diagnostic Odyssey

May 23, 2019 | Episode 43 | 25 mins

Rare diseases affect millions of people around the world. Dr. Matt Might is Professor and Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama Birmingham. His son, Bertrand, was the first person to be diagnosed with NGLY1 deficiency, an ultra-rare disorder. Matt joined me to discuss Bertrand’s diagnostic odyssey and the impact of genomics on rare disease research.

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