It€™s all in the brain
[ Research Review 0809 : ]
By Silvia Dropulich
For Professor Sam Berkovic the brain is the most complex and fascinating organ in the body. The major focus of Professor Berkovic€™s work involves the study of the genetic basis of epilepsy. He and his research team showed that many types of epilepsy have a significant genetic component.
Once this was established, Professor Berkovic€™s team 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 identifying the first gene for epilepsy.
Professor Berkovic is currently leading an NHMRC-funded Program entitled €˜Epilepsy: Molecular Basis and Mechanisms in the Era of Functional Genomics€™. The study focuses on epilepsy through a number of different avenues. One is to continue to study the genes that are involved in epilepsy. Animal models with the identical genetic change as people with epilepsy have been developed and are being studied.
The Program will also carry out investigations such as magnetic resonance imaging and positron emission tomorgraphy on people with epilepsy. This will improve the understanding of the relationship between abnormalities in genes and the brain structure, and epilepsy.
€œThis multi-faceted Program of epilepsy reserach aims to determine how gene changes causes seizures,€ Professor Berkovic said.
€œThe different forms of research will, when combined, help the team towards their goal of developing new and better forms of diagnosis and treatment for people with epilepsy.€
Professor Berkovic is Director of the Comprehensive Epilepsy Program at Austin Health, Director of the Epilepsy Research Centre, and Scientific Director of the Brain Research Institute. He is Laureate Professor in the Department of Medicine, Austin Health/Northern Health at the University of Melbourne, and is an adjunct Chair in the Department of Neurology and Neurosurgery at McGill University, Montreal, Canada.
The son of holocaust survivors, Dr Berkovic says he always wanted to be a doctor. He does not believe that his view of humanity has been shaped or affected by stories of the holocaust, but he believes that as a first-generation Australian he was influenced by the work ethic of his migrant parents, who worked extremely hard to get themselves financially established.
None of Professor Berkovic€™s immediate family or circle of friends are diagnosed with epilepsy €“ his interest in the condition is derived from the condition itself.
Professor Berkovic€™s first job at the Austin was as a neurology intern in 1978. The first physician he worked for was Dr Peter Bladin, Austin€™s first neurologist, who formed the neurology unit. Dr Berkovic found Dr Bladin highly inspirational. Epilepsy was an area that Dr Bladin was very passionate about.
€œWhen you€™re dealing with epilepsy, you€™re not merely dealing with the physical aspects of a condition,€ Professor Berkovic said.
€œIf you€™ve got a broken leg, everybody can relate to a broken leg,€ he said.
€œIt hurts, your leg doesn€™t work, you fix it and that€™s kind of about what it is.
€œEverybody can understand that.
€œBut with something like epilepsy where you€™re rendered suddenly and unpredictably unconscious, and you€™re placed suddenly and unpredictably in sort of embarrassing circumstances, and you lose control €“ that€™s something extremely difficult for people to deal with.
€œEpilepsy is a much more complicated condition and there€™s a major sort of psychological element to dealing with it.€
As far back as Hippocrates (the great Greek physician of 2000 years ago), there has
been a lot of mythology, superstition and prejudice against people with epilepsy. At the time of Hippocrates epilepsy was called the €˜sacred disease€™.
In some cultures epilepsy sufferers were seen as special, but for many it is also seen as a condition that should be expunged.
€œSadly, there are still hangovers today from those discriminatory aspects of epilepsy,€ Dr Berkovic said.
€œAnd I think that this is because of the difficulty in relating to the suffering and change in the person with epilepsy, who is normal one moment and literally seizing the next.€
The brain is an electrical organ, Professor Berkovic explains.
Electrical changes can be measured by EEGs, recorded by wires on the head. The problem or challenge is in the fact that the circuits are organised at levels beyond human comprehension. The ability to find the genes sheds some light on knowledge that is fundamental to the biology of epilepsy and understanding how and why the circuits may go haywire.
Professor Berkovic observes that compared to his days as an intern at the Austin, the technology that is now available for genetic studies has €˜exploded€™.
€œIt€™s a totally different environment today,€ Professor Berkovic said.
€œAnd it keeps getting more interesting.
€œFrom the perspective of genetics, I believe individuals will have much more understanding and control over their destinies in terms of their personal choices about lifestyle.€
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