GSK research award goes to epilepsy pioneer

Australian epilepsy researcher Prof Sam Berkovic has been awarded the 2002 GlaxoSmithKline (GSK) Australia Award for Research Excellence for his pioneering discoveries of the genetic causes of epilepsy.

The GSK chairman of research and development, Dr Tachi Yamada, presented the award to Berkovic in Melbourne on Wednesday night. Yamada said that Berkovic's research offered unique opportunities to enhance the treatment of epilepsy.

Berkovic said he was very pleased to be given the award.

"My area is mainly in clinical research, so it's nice to be recognised by the wider biomedical community," he said.

Berkovic's contributions to research into the genetic causes of epilepsy have been enormous. After returning to Australia from Canada in 1987, Berkovic began to investigate epilepsy, in particular focusing on twin studies as a way to tease out the genes involved.

In 1995, Berkovic, along with Prof Grant Sutherland and Prof John Mulley's team from the Molecular Genetics unit at the Women's and Children's Hospital in Adelaide, identified the first defined mutation in idiopathic (inherited) epilepsy.

Starting with a molecular marker associated with a rare form of the disorder, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), the researchers screened DNA from a large family affected with the disorder and were able to eventually identify a missense mutation in the alpha 4 subunit of the neuronyl nicotine acetylcholine receptor.

Since then, Berkovic and his team have been involved in the discovery of eight of the eleven genes now known to be associated with epilepsy. These include mutations in potassium and sodium channel proteins, another subunit of the acetylcholine receptor and the GABAA receptor. Significantly, the majority of these mutations have been in ion channel proteins, offering some clues into some of the underlying causes of the disorder.

According to Berkovic, the discoveries provide proof of an important role for genetic factors in the development of epilepsy, and will lead to clinical management opportunities including improved diagnosis and treatment options.

"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," he said.

He said that almost all of the drugs currently used to treat epilepsy were discovered by chance, by screening against various animal models of the disease.

"We have been in desperate need of new systems to test drugs for novel modes of action against epilepsy. There can be no better way than having the fundamental defect identified and modelling it in simple laboratory systems and animals. This will enable us to develop new compounds that will confer obvious and significant benefits," Berkovic said.

Adelaide biotech company Bionomics and University of Melbourne researcher Dr Steven Petrou have in fact successfully created a mouse model by "knocking in" one of the epilepsy mutations discovered by Berkovic's team.

Previous winners of the GSK Award for Research Excellence (previously known as the Glaxo Wellcome Australia Medal) have included immunologist Prof Tony Basten, Prof Alan Trounson, and most recently Prof Phillip Hogg for his work on angiogenesis.

The Award provides the winner with $30,000 to acknowledge their contribution to science and help further their work.

"There is no doubt that the ground breaking work of Professor Berkovic and his team has contributed substantially to our understanding of epilepsy and I congratulate him on winning this prestigious award," said GSK Australia's managing director Daniel Tasse.