Unlocking epilepsy wins Prime Minister's award

November 14 / 148

Professors Sam Berkovic and Ingrid Scheffer
Professors Sam Berkovic and Ingrid Scheffer

Professors Sam Berkovic and Ingrid Scheffer have been awarded the $300,000 2014 Prime Minister’s Prize for Science for their contribution to the study of epilepsy, its diagnosis, management and treatment.

The clinician-researchers from the Departments of Medicine at Austin Hospital and the Florey Department of Neuroscience and Mental Health have contributed to worldwide efforts to explore and map inherited epilepsy.

Professor Berkovic said 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,” he said.

“Parents felt responsible, and the resulting guilt was enormous.”

Both professors have led the way in identifying genetic bases for many types of epilepsy, building on their discovery of the first ever link between a specific gene and a form of epilepsy. 

Professors Berkovic and Scheffer 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 have opened the way to better targeted research, diagnosis and treatment.

Together with collaborators, they have shown that genetic cues can lead to seizures in different ways in different forms of epilepsy.

Professor Scheffer said finding answers to the puzzle of epilepsy has been of profound importance for families dealing with this disease.

“An important cause, for instance, is interference with the movement of nutrients across nerve cell membranes,” she said.

“In one of these cases, treatment using a diet that avoids glucose is effective.”

Professor James McCluskey, Deputy Vice-Chancellor (Research) said their clinical work combined with research had contributed to a deeper understanding of the causes of epilepsy.

“This is having a major impact on epilepsy research worldwide and on strategies for diagnosis and development of new treatments,” he said.

Professor Berkovic was also recently honoured as the 2015 Victorian Senior Australian of the Year.

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