Pursuing Precision Medicine for Rare Diseases with Gemma Carvill, PhD

Breakthroughs
03/02/2025 26 min
Pursuing Precision Medicine for Rare Diseases with Gemma Carvill, PhD

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Episode Synopsis

Scientists from Northwestern Medicine, the Broad Institute of MIT and Harvard have uncovered the first rare genetic disorder linked to a long non-coding RNA gene. In this episode, Gemma Carvill, PhD, explains how this discovery, published in The New England Journal of Medicine, came to be and the critical roles non-coding regions of the genome may have in human health. 

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