03:21pm Thursday 14 December 2017

Irish team to participate in international research effort on the genetics of epilepsy

The project is made possible thanks to a $25 million grant from the US National Institute of Neurological Diseases and Stroke to Duke University Medical Centre in North Carolina in the United States.
 
Researchers at Duke were awarded the grant as part of the “Centre Without Walls” initiative aimed at bringing leaders in epilepsy and human genetics together to improve understanding of the biology of the condition and to develop new directions for its treatment.
 
Much of the work done in this area to date has been isolated but in recent years, efforts have been made to co-ordinate work and collaborate more.
 
It is well accepted that there is a strong genetic basis for epilepsy. However, few genes have been found to date. The project is known as “Epi4K” and will look at new gene discovery in the complete DNA sequence of 4,000 people with epilepsy from around the world, including it is hoped, some from Ireland.
 
“This grant allows us to study the genomes of epilepsy patients on a sufficiently large scale that we should be able to identify many new genes involved in the risk of epilepsy. Our hope is that these discoveries will provide validated targets for the development of new drugs” said Professor David Goldstein, Director of the Duke Centre for Human Genome Variation.
 
“Our DNA is so complex that you need to study many patients to begin to unravel the genetic secrets of the condition”, explains Dr Gianpiero Cavalleri, Biomedical Research Lecturer at RCSI, whose main research interest in is epilepsy genetics.
 
“Because sequencing the human genome has become much faster and cheaper in recent years, more information can now be generated at relatively low cost to look at important research questions like these. It is a very exciting study that will hopefully not only find more genes involved in epilepsy but also increase our ability to interpret these genes, particularly in people with a family history of the condition”, Dr Cavalleri continued.
 
Research teams from centres in the US, Australia, the UK and Canada as well as Ireland will be involved in the work over the next five years.


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