Sam Berkovic and Ingrid Scheffer have changed the way the world thinks about epilepsy, a debilitating condition that affects about 50 million people.
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.
Their discoveries of the connections between epilepsy and genes have opened the way to better targeted research, diagnosis and treatment for epilepsy. With collaborators, they have shown that genes can lead to seizures in different ways in different forms of epilepsy. An important cause, for instance, is interference with the movement of nutrients across nerve cell membranes. In one of these cases, treatment using a diet that avoids glucose is effective.
For their contribution to the study of epilepsy, its diagnosis, management and treatment, Sam Berkovic of The University of Melbourne and Austin Health and Ingrid Scheffer of The University of Melbourne and the Florey Institute of Neuroscience and Mental Health and Austin Health received the 2014 Prime Minister’s Prize for Science.