Epilepsy expert on 'The Project' for rare genetic disorder

27 November 2017
Epilepsy expert Professor Petrou Professor Steve Petrou, from The Florey Institute of Neuroscience and Mental Health, was recently invited to present on The Project, a national television show, to offer his expertise on a rare genetic disorder caused by a mutation in the SYNGAP1 gene. 

The SYNGAP1 gene plays a major role in the growth and function of a healthy brain; where there is a mutation in this gene, the SYNGAP1-related intellectual disability occurs. This neurological disorder is characterized by moderate to severe intellectual disability that is evident in early childhood. Features of this genetic condition also include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder.

Professor Petrou is the co-head of the Epilepsy division at the Florey Institute. The Florey's Epilepsy division is a world-leading centre for epilepsy research and studies mechanisms that cause epilepsy from the level of cells to the function of the whole brain. Using technologies including advanced MRI and cutting edge cellular physiology techniques, the team is aiming to understand genetic and acquired mechanisms that give rise to epilepsy. Professor Petrou is also the head of the Ion Channels and Human Diseases Laboratory. The research focuses on understanding the pathology of ion channel disorders, in particular epilepsy, and uses in vitro and in vivo models to reveal opportunities for developing novel therapies.

Through continual funding of these research areas, Professor Petrou believes a cure is possible for the SYNGAP1 disorder.

Professor Steve Petrou also has an appointment with The University of Melbourne in the Department of Pharmacology and Therapeutics and the Centre for Neural Engineering

For more information:
View the video on Ten Play.