For their contribution to the study of epilepsy, its diagnosis, management and treatment, Professor Sam Berkovic and Professor Ingrid Scheffer have been awarded the 2014 Prime Ministers Prize for Science.
Sam Berkovic and Ingrid Scheffer have changed the way the world thinks about epilepsy, the debilitating condition that affects about 50 million people.
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. Parents felt responsible, and the resulting guilt was enormous.
The two clinician-researchers from the University of Melbourne have led the way in finding a genetic basis for many epilepsies, building on their discovery of the first ever link between a specific gene and a form of epilepsy. Finding that answer has been of profound importance for families.
Along the way, Sam and Ingrid 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 of the connections between epilepsy and genes have opened the way to better targeted research, diagnosis and treatment for epilepsy. Together with collaborators, they have shown that genes can lead to seizures in different ways in different forms of epilepsy. An important cause, for instance, is interference with the movement of nutrients across nerve cell membranes. In one of these cases, treatment using a diet that avoids glucose is effective.
For their contribution to the study of epilepsy, its diagnosis, management and treatment, Laureate Professor Sam Berkovic of the University of Melbourne and Austin Health and Professor Ingrid Scheffer of the University of Melbourne and the Florey Institute of Neuroscience and Mental Health and Austin Health have been awarded the 2014 Prime Ministers Prize for Science.
Around 9.15 pm on any given Tuesday, Sam Berkovic rings Ingrid Scheffer. Thats roughly 15 minutes after he finishes his consultations with adult epilepsy patients. Ingrids last appointments with her mainly child and adolescent patients wind up a little earlier in the day.
Over the phone they compare notes on what they have seen and begin floating ideas for critical review, eventually deciding what is worth taking to their research group for discussion about further study and experimentation. This is the beginning of a time-honoured process which has made them leaders in their chosen field of epilepsy research.
They and their colleagues have tracked down 13 of the 23 genes known to be directly linked with forms of epilepsy. The work involves some of the latest molecular and genomic biology techniques. As physicianresearchers, they collaborate closely with basic scientists, including geneticists, bioinformaticians and neurophysiologists in Australia and overseas to find and understand the genes and how they cause epilepsy. Ingrid and Sams core research is concerned mainly with the rigorous description of the syndromes or forms in which epilepsy comes, so that doctors can diagnose the condition and advise patients and carers as to the prognosis and potential treatments.
Read more here:
The genetics of epilepsy: bringing hope to families