Australian researchers involved in record international study of epilepsy genes

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Posted 1 week ago by Nicole Pope

The study involved most 18,000 people worldwide to identify rare genetic variations associated with an increased risk of developing the condition [Source: Shutterstock]
The study involved most 18,000 people worldwide to identify rare genetic variations associated with an increased risk of developing the condition [Source: Shutterstock]

Australian researchers and patients have been involved in an international study looking at the genetic sequences of people with epilepsy, with the research being deemed the ‘largest study ever.’

Victorian health service, Austin Health and the University of Melbourne have joined almost 18,000 people worldwide in helping identify rare genetic variations associated with an increased risk of developing the condition.

Director of Epilepsy with Austin Health and Laureate Professor with the University of Melbourne, Professor Sam Berkovic, says 1,370 patients from both institutions contributed to the international study, which was five times larger than any previous research looking at the genes of epilepsy patients.

"Genetic sequencing has significantly improved our understanding of the risk factors associated with epilepsy in recent years," he says.

"This research is important because the more we understand the genes that are linked to epilepsy, the better we can tailor treatments to reduce the symptoms and let patients live more active lives."

The study involved more than 200 researchers from across the globe and 17,606 people from across 37 locations in Europe, North America, Australasia and Asia, with the clinical data coordinated in Melbourne.

Professor Bekovic says approximately 50 million people across the world live with the condition that causes repeated seizures due to excessive electrical activity in the brain.

"Epilepsy comes in a number of different forms ranging from less common variations such as developmental and epileptic encephalopathies (DEE) that cause severe symptoms to other, less severe forms such as genetic generalised epilepsy (GGE) and non-acquired focal epilepsy (NAFE) that account for up to 40 percent of cases,” he explains.

Chief Executive Officer (CEO) and Managing Director of Epilepsy Action Australia, Carol Ireland says over 250,000 people are living with epilepsy in Australia with 30 to 35 percent not achieving adequate seizure control on conventional anti-epileptic medications.

She says the analysis of this large, worldwide genetic dataset will potentially yield greater results to help improve the lives of people with epilepsy. 

“The ability to identify genetic links between different forms of epilepsy and varieties that increase the risk of epilepsy will significantly enhance the progress in precision medicine and personalised care for people living with the condition,” Ms Ireland says. 

CEO of Epilepsy Australia, Graeme Shears says the condition can have a significant, debilitating impact on the lives of the 30 percent of people with epilepsy who do not gain seizure control from medical interventions, which is where precision medicine plays a vital role.

“Understanding [an] individual’s epilepsy is the key to improving [their] quality of life.”

Professor Bekovic says there are already plans to double the size of the study next year to further explore the significance of the genetic variations that are linked with the condition.

The international research was published this week in the American Journal of Human Genetics https://doi.org/10.1016/j.ajhg.2019.05.020

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