Current Researcher Profiles

Professor Sam Berkovic  

Professor Berkovic is a leading epilepsy research scientist, he heads the Epilepsy Research Centre at the University of Melbourne and the Comprehensive Epilepsy Program at Austin Health.   

Professor Berkovic, recently won the prestigious Zülch Prize of Germany’s Max Planck Society for his groundbreaking investigations into the genetic foundations of epilepsy.

Professor Berkovic’s award recognises his major study of more than 300 twins with epilepsy and numerous large families, which revealed new insights into the genetics of epilepsy. Direct outcomes of his work include changes in patient management and new concepts in the understanding of epilepsies.

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 (of elements such as sodium and chlorine) 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 Zülch Prize include University of Melbourne academic, Professor Colin Masters, who received the award in 1995 for his research into the molecular pathology of Alzheimer’s disease.

In 2002, Professor Berkovic and his team at the Austin and Repatriation Medical Centre (ARMC) also won the GlaxoSmithKline Australia Award for Research Excellence, which recognised his work in discovering a series of genes for epilepsy, including the first epilepsy gene, and in revolutionising the understanding of epilepsy.

Epilepsy affects about two percent of Australians at some time in their lives.

“Whilst heredity has long been known to be important in epilepsy, its role has not been well-understood, and these findings are revealing the fundamental basis of the inheritance of epilepsy,” says Professor Berkovic.

He says the role of injuries during or about the time of birth in the development of epilepsy has been grossly exaggerated. “Genetic factors play a role in a least half of all patients with epilepsy.”

“I have no doubt these discoveries will soon become part of routine clinical diagnosis. This will enable us to rapidly screen for the condition and thereby improve disease management,” Professor Berkovic says.

Professor Berkovic’s team in Melbourne and colleagues from the Centre for Molecular Genetics at the Women’s and Children’s Hospital in Adelaide have been involved in the discovery of eight of the 11 genes now known to be associated with epilepsy.

These discoveries have ensured Australia has become recognised as a world leader in the area of epilepsy research.

Professor Berkovic initially focused on epilepsy in twins. His team has identified over 500 sets of twins with seizures, which has led to a deeper understanding of the clinical genetics of epilepsy.

He and his team then moved into large family studies to identify the genes involved in the idiopathic epilepsies – epilepsies with no known physical or environmental causes such as brain injury.

The work has led to opportunities to develop improved treatments. “Virtually all of the anti-epileptic drugs currently available have been discovered by chance. They have been screened against a variety of animal models that allegedly reproduce the human condition,” he says.

“The discovery of epilepsy genes enables us to develop new compounds that will confer obvious and significant benefits.”

Adapted from original articles in UniNews 18 Nov 2002 (original author: Jason Major) and Uninews Vol. 14, No. 20.