Research undertaken to discover genetic cause of epilepsy

The University of Liverpool has received a £390,000 grant from the MRC to conduct research into how mutations in genes can cause epilepsy (University of Liverpool, 2017) .

Epilepsy is estimated to affect more than 500,000 people in the UK. This means that around one in every hundred people has the condition. Cells in the brain, known as neurons, normally communicate with each other using electrical signals and chemical messengers. In epilepsy, there are abnormal bursts of electrical activity in brain neurons, which leads to various types of recurrent seizures.

The research, which is to be conducted by a team of researchers from the University of Liverpool’s Institute of Translational Medicine (ITM), will examine how epilepsy-associated mutations in evolutionarily conserved neuronal genes can cause epilepsy.

Professor Alan Morgan, from the Institute of Translational Medicine, who led the bid, said “Genetics has long been recognised to play an important role in many types of epilepsy. However, it is only in the last few years that substantial progress has been made in identifying the genetic mutations that cause epilepsy. Although this is a major recent breakthrough, understanding how these genetic variations contribute to epilepsy and translating this into new treatments will require extensive further work bridging different areas of biomedical research. Our multi-disciplinary project will address this by capitalising on the expertise of the team of co-investigators within ITM in the areas of epilepsy (Dr Graeme Sills, Prof Tony Marson), neurobiology (Prof Alan Morgan, Dr Jeff Barclay, Prof Bob Burgoyne) and genetics (Prof Andrew Morris). This will involve identifying novel epilepsy-associated mutations, engineering these into the genome of the model organism Caenorhabditis elegans, and analysing the functional consequences of the mutations.”

If successful, the project will illuminate how genetic variation in conserved genes causes functional changes that lead to epilepsy and may reveal novel targets for anti-epileptic drug discovery.

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