Professor Yanick Crow and his team at the MRC Human Genetics Unit are testing new treatments for a rare genetic disorder called Aicardi–Goutières syndrome, or AGS.
All tagged rare disease
Natalie Frankish: From a Diagnostic Odyssey to a Good Diagnosis
Natalie Frankish from Genetic Alliance UK explains the long route to diagnosis for patients with rare genetic diseases and what a good diagnosis should look like.
Dr Joe Marsh: Understanding the role of Variants of Unknown Significance in rare disease
Dr Joe Marsh at the MR Human Genetics Unit is trying to figure out how variations in the genome might cause disease.
Professor Zosia Miedzybrodzka: Expanding genetic testing for rare diseases
Professor Zosia Miedzybrodzka from the University of Aberdeen explains how testing for rare genetic diseases has changed over the years, and where it’s heading in the future.