Sam Berkovic and Ingrid Scheffer have changed the way the world thinks about epilepsy, a debilitating condition that affects about 50 million people.
of many epilepsies. Credit: Prime Minister’s Prizes for Science/WildBear
Twenty years ago doctors tended to regard most forms of epilepsy as acquired rather than inherited. In other words, they believed epilepsy was mostly due to injury: the result of things like a crack on the head in a car accident, a bad fall in the playground, a tumour, or something having gone wrong in labour. Parents felt responsible and the resulting guilt was enormous.
The two clinician-researchers from The University of Melbourne have led the way in finding a genetic basis for many epilepsies, building on their discovery of the first ever link between a specific gene and a form of epilepsy. Finding that answer has been of profound importance for families.
Along the way, Sam and Ingrid discovered that a particularly severe form of epilepsy, thought to result from vaccination, was actually caused by a gene mutation. This finding dispelled significant concerns about immunisation.
Continue reading The genetics of epilepsy: bringing hope to families
