Award for genetic study that revolutionised thinking on epilepsy

Melbourne researcher, Professor Sam Berkovic, has been awarded the prestigious Zulch Prize from the Max Planck Society in Germany in recognition of his groundbreaking investigations into the genetic foundations of epilepsy.

The scientist was awarded for his major study of more than 300 twins with epilepsy and numerous large families, which revealed new insights into the genetics of epilepsy. This has led directly to changes in patient management and new concepts in the understanding of epilepsies.

Professor Berkovic heads the Epilepsy Research Centre at the University of Melbourne and the Comprehensive Epilepsy Program at Austin Health.

Professor Berkovic and his research team were the first to prove that many types of epilepsy have a significant genetic component. Once this was established, he looked deeper into the illness and with collaborators at the Women’s and Children’s Hospital, Adelaide, discovered a number of new inherited epilepsy syndromes which led to many more discoveries.

“The series of discoveries in human epilepsies of the underlying genetic basis has led to the acceptance that many types of epilepsy are the result of inherited changes in ion channels,” Professor Berkovic says.

“Ion channels are essentially like the gatekeepers to our brain cells. They are proteins on the cell surface that regulate the flow of ions (like sodium and chloride found in common salt) in and out of the cell. A variety of ion channel changes are now known to cause epilepsies,” he says.

“These include channels that respond to changes in the electrical properties of brain cells and those that respond to the chemical messengers that travel between brain cells.”

Some specific consequences of Professor Berkovic’s work include more accurate diagnosis, treatment and counselling of people with epilepsy. The hope now is to develop novel therapeutic approaches based on the ion channel concept.

“This research has changed our whole understanding of epilepsy and is forcing an overhaul of the classification of this illness. The concept of epilepsies as ‘channel-opathies’ has revolutionised the basic scientific approach to understanding epilepsy,” he says.

The Zülch Prize is awarded annually by the Max Planck Society for outstanding achievements in basic neurological research. The Prize, worth 50,000 euros, has always been shared between two scientists.

Professor Berkovic shares the award with Professor Christian Elger from the University of Bonn, who was also recognised for research into epilepsy.

Previous winners of the Prize include University of Melbourne academic, Professor Colin Masters, who was awarded in 1995 for his research into the molecular pathology of Alzheimer’s disease.