Completed Brain & Nervous System Genetics & Molecular Biology

Genome-wide association studies in partial epilepsies.

Funder Wellcome Charity-funded
Recipient organisation University College London
Funding £1.4M
Period Mar 2008 — Jul 2014

In plain English

AI plain-English summary

A multinational consortium of epilepsy researchers is scanning the DNA of thousands of patients to pinpoint the common genetic variants that make some people susceptible to partial epilepsies—the most common form of the disorder. Partial epilepsies account for the bulk of epilepsy’s disease burden, yet the specific genetic contributions to who develops the condition and why seizures sometimes spread to the whole brain remain poorly understood. Most genetic studies have focused on rarer, inherited forms of epilepsy. This project fills that gap by applying genome-wide association studies (GWAS)—a technique that has transformed understanding of many other common diseases—to large, well-characterised patient groups. If the team identifies robust genetic risk factors, the findings could eventually lead to better prediction of who will develop epilepsy, guide the choice of existing treatments, and open avenues for entirely new therapies. The consortium has already established shared definitions for disease and seizure types, and includes samples from GlaxoSmithKline. The work is primarily fundamental science—mapping the genetic architecture of a common neurological condition—but such discoveries have historically laid the groundwork for clinical advances in prevention and personalised medicine.

View original technical description
scientifically qualified assessors (no more than 200 words): Genome-wide association studies (GWAS) are daily advancing understanding across human diseases, with enormous potential for disease prevention, generation of novel treatments and better use of existing treatments. We propose contemporary, potent GWAS to reveal genetic contributions to specific phenotypes in the partial epilepsies, which are the most common epilepsy type, representing the bulk of disease burden. We have already undertaken extensive genomics research. Experience, including our own, has enabled formulation of a successful strategy which we intend to apply to our multinational patient cohort collection established through an international collaborative consortium in epilepsy genomics. Our collaboration includes industry, with samples from GlaxoSmithKline collection, and funding contribution from GSK contingent on successful funding of the application. For this application, we have assembled a large cohort of well-characterised patients with partial epilepsy, secured access to even more patients, and established and applied consortium-wide definitions for disease and seizure types. Our published genotyping, association and post-association follow-up strategies, validating both our cohorts and our general approach, will be applied. Our key goals are to identify common genetic risk factors for disease susceptibility and seizure generalisation in the partial epilepsies and to generate a large genotype dataset for further studies.

View the original record at the funder ↗

Researchers

Sanjay Sisodiya (EPMC Awardee)

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Original classification

Programme Grant

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