Feb 23 Professor Yanick Crow: Testing a new treatment for Aicardi–Goutières syndrome

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.

Feb 23

Feb 23 Natalie Frankish: From a Diagnostic Odyssey to a Good Diagnosis

Kat Arney

Health, Genetic testing, Genomics

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.

Feb 23

Feb 23 Dr Joe Marsh: Understanding the role of Variants of Unknown Significance in rare disease

Kat Arney

Health, Genomics, Genetic testing

Dr Joe Marsh at the MR Human Genetics Unit is trying to figure out how variations in the genome might cause disease.

Feb 23

Feb 23 Professor Zosia Miedzybrodzka: Expanding genetic testing for rare diseases

Kat Arney

Genetic testing, Genomics, Health

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.