Professor Ingrid E Scheffer, University of Melbourne, Austin Health and Royal Children’s Hospital, and Florey Institute, Melbourne, VIC
The genetic revolution is transforming human disease. The idea that finding the causative genetic mutation will lead scientists to understand the biology of a disease and then target the defect is becoming a clinical reality. For epilepsy, genetic understanding is changing clinical diagnostic approaches for patients with severe disorders with impact for patients and their families. Excitingly, we are now at the cusp of defining and using precision therapies which hold untold promise for treatment and, one day, cure of these devastating diseases.