Nav: Home

Largest ever study finds links in epilepsy genes

August 01, 2019

Researchers and patients from Austin Health and the University of Melbourne have been involved in the largest ever study looking at the genetic sequences of people with epilepsy.

The international research, published this week in the American Journal of Human Genetics, involved almost 18,000 people worldwide and identified rare genetic variations that are associated with a higher risk of epilepsy.

Professor Sam Berkovic, Director of Epilepsy with Austin Health and Laureate Professor with the University of Melbourne, said the study found there were genetic links shared by both severe forms of epilepsy and less severe forms of the disease.

"There are approximately 50 million people across the world with epilepsy, a condition that causes repeated seizures due to excessive electrical activity in the brain," Professor Berkovic said.

"Epilepsy comes in a number of different forms ranging from less common variations such as developmental and epileptic encephalopathies that cause severe symptoms, to other, less severe forms such as genetic generalised epilepsy and non-acquired focal epilepsy that account for up to 40 per cent of cases.

"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 brought together more than 200 researchers from across the world to better understand the genetics of the disease.

Researchers used sequencing to look at the genes of 17,606 people from across 37 sites in Europe, North America, Australasia and Asia and found rare genetic variations that are associated with both severe and less severe forms of epilepsy.

The coordination of the clinical data occurred in Melbourne with the gene sequencing performed at the Broad Institute, Boston, led by Dr Benjamin Neale.

1370 patients from Austin Health and the University of Melbourne were part of the study, which was five times larger than any previous research looking at the gene sequencing of epilepsy patients.

"Genetic sequencing has significantly improved our understanding of the risk factors association with epilepsy in recent years," Professor Berkovic said.

"This study shows that more and less severe forms of the disease share similar genetic features, and the more we understand these features the better chance we have to personalise the care we give to patients.

"There are already plans in place to double the size of the study in the next year to further explore the significance of the genetic variations that are linked with epilepsy."
-end-
The research 'Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals, The American Journal of Human Genetics (2019)' is available at: https://doi.org/10.1016/j.ajhg.2019.05.020

University of Melbourne

Related Science Articles:

75 science societies urge the education department to base Title IX sexual harassment regulations on evidence and science
The American Educational Research Association (AERA) and the American Association for the Advancement of Science (AAAS) today led 75 scientific societies in submitting comments on the US Department of Education's proposed changes to Title IX regulations.
Science/Science Careers' survey ranks top biotech, biopharma, and pharma employers
The Science and Science Careers' 2018 annual Top Employers Survey polled employees in the biotechnology, biopharmaceutical, pharmaceutical, and related industries to determine the 20 best employers in these industries as well as their driving characteristics.
Science in the palm of your hand: How citizen science transforms passive learners
Citizen science projects can engage even children who previously were not interested in science.
Applied science may yield more translational research publications than basic science
While translational research can happen at any stage of the research process, a recent investigation of behavioral and social science research awards granted by the NIH between 2008 and 2014 revealed that applied science yielded a higher volume of translational research publications than basic science, according to a study published May 9, 2018 in the open-access journal PLOS ONE by Xueying Han from the Science and Technology Policy Institute, USA, and colleagues.
Prominent academics, including Salk's Thomas Albright, call for more science in forensic science
Six scientists who recently served on the National Commission on Forensic Science are calling on the scientific community at large to advocate for increased research and financial support of forensic science as well as the introduction of empirical testing requirements to ensure the validity of outcomes.
More Science News and Science Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Erasing The Stigma
Many of us either cope with mental illness or know someone who does. But we still have a hard time talking about it. This hour, TED speakers explore ways to push past — and even erase — the stigma. Guests include musician and comedian Jordan Raskopoulos, neuroscientist and psychiatrist Thomas Insel, psychiatrist Dixon Chibanda, anxiety and depression researcher Olivia Remes, and entrepreneur Sangu Delle.
Now Playing: Science for the People

#537 Science Journalism, Hold the Hype
Everyone's seen a piece of science getting over-exaggerated in the media. Most people would be quick to blame journalists and big media for getting in wrong. In many cases, you'd be right. But there's other sources of hype in science journalism. and one of them can be found in the humble, and little-known press release. We're talking with Chris Chambers about doing science about science journalism, and where the hype creeps in. Related links: The association between exaggeration in health related science news and academic press releases: retrospective observational study Claims of causality in health news: a randomised trial This...