11 new epilepsy genes discovered

Irish scientists part of international team
  • Deborah Condon

A major study involving Irish scientists has led to the discovery of 11 new genes associated with epilepsy.

It is hoped that these findings will lead to the development of new therapies for the condition, which currently affects almost 40,000 people in Ireland.

Epilepsy is a neurological condition affecting the brain. It is characterised by recurring seizures.

In the largest study of its kind, a team of international researchers, including scientists from the Royal College of Surgeons in Ireland (RCSI), compared the DNA of over 15,000 people with epilepsy, to the DNA of 30,000 people without the condition.

This allowed them to develop a better understanding of the genetic factors that contribute to the most common forms of epilepsy. The results tripled the number of known genetic associations for the condition and implicated 11 new genes.

According to the RCSI, the study ‘greatly advances knowledge of the underlying biological causes of epilepsy'.

The study found that most anti-epileptic drugs currently available directly target one or more of the associated genes, and they identified another 166 drugs that do the same. As a result, these drugs are potential candidates for epilepsy therapy because they directly target the genetic basis of the disease.

"We have appreciated for some time that genetics plays an important role in epilepsy, however until now, relatively little was known about the specific genes responsible for the most common forms of the disorder.

"Identifying the genes that cause epilepsy is particularly important when we consider that a third of the 65 million patients worldwide will not become seizure free using current treatment options," commented Dr Colin Doherty, National Clinical Lead for Epilepsy and a principal investigator at the FutureNeuro Science Foundation Ireland (SFI) Research Centre.

Meanwhile, according to consultant neurologist at Beaumon Hospital, Prof Norman Delanty, aside from the biological insights provided by these findings, this study ‘will encourage researchers to develop personalised and precision therapies for patients with difficult and complex epilepsy'.

"This will provide better seizure control and will enable improved quality of life for patients and families," he said.

Over 150 researchers worldwide carried out this research, working together as part of the International League Against Epilepsy Consortium on Complex Epilepsies. It was part-funded by SFI.

"This work illustrates the power of scientists collaborating across countries and continents. Discovering these new genes for epilepsy provides important information towards novel treatments for the condition. This is another important step on the road towards curing the epilepsies," added Dr Gianpiero Cavalleri, of the RCSI and deputy director of the FutureNeuro SFI Research Centre.

Details of these findings are published in the journal, Nature Communications.

 


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