QBI Neuroscience Seminar: Epilepsy: from Genes to Cures for the Sacred Disease?
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- Professor Samuel F Berkovic, Director,
Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg VIC
Title: Epilepsy: from Genes to Cures for the Sacred Disease?
Abstract: Epilepsy is an ancient condition shrouded in misunderstanding, superstition and stigma. Understanding the basic causes is challenging. Whilst epilepsy may be a consequence of an acquired insult including trauma, stroke, and brain tumours, the genetic component to epilepsies has been under-estimated. Considerable progress has recently occurred in the understanding of epilepsy genetics, both at a clinical genetic level and in the basic science of epilepsies.
The evidence for genetic components will be first briefly discussed including data from population studies, twin analyses and multiplex family studies. Research in simple systems, and utilizing animal models with mutant ion channel subunits observed in humans, is revealing mechanistic insights at cellular, network and whole animal levels. Examples will be given as to how discoveries beginning with clinical research in patient populations leads to molecular genetic discoveries with subsequent unravelling of pathophysiology that informs clinical care and provides a realistic pathway to new treatments tailored to the individual.
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