Epilepsy: is the genetic revolution friend or foe?
From Jillian Hosie
Wednesday 15th March 2017
In this lecture Dr Richard FM Chin and Professor Cathy Abbott explore how rapid advances in the field of genetics has changed our understanding of the cause(s) of epilepsy over the last 10 years. Epilepsy, one of the most common neurological conditions worldwide, is characterised by a tendency for seizures starting in the brain. There are more than half a million people in the UK with epilepsy but in more than half the cause is not known. Twin studies showed us a long time ago that there is a genetic component to epilepsy, and family studies later identified some cases of epilepsy caused by a single gene. More recently, new developments in DNA sequencing have enabled us to identify new mutations that have occurred in children with (usually) severe epilepsy, often coupled with intellectual disability and autism, but without any family history of epilepsy. The discovery of new genes has opened up whole new avenues for research, in our understanding of what goes wrong in the way nerve cells communicate with each other, and the intriguing possibility of bespoke individual drug treatments. Most parents want to know about the prognosis for their child, but at the moment, with children prioritised for DNA sequencing, we may not yet know of any adults with mutations in the same gene and so can’t begin to predict outcomes. Does the desire for a definite diagnosis, and the membership of a “club” of families affected in the same way make the new technology a friend? Or does the uncertainty that clinicians have to communicate to the parents make the new technology a foe? Join us to explore the advances, the dilemmas, and the hopes for the future as we hunt for a cure and or better treatments for epilepsy.