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Saturday, 29 July 2017

Unravelling the complex genetic architecture of epilepsy

Earlier this week I had the opportunity to visit the Epilepsy Society's research centre in Chalfont St Peter, Buckinghamshire, which is enabling the Society to carry out the most advanced epilepsy research in Europe and translate it into clinical practice. 

The state-of-the-art two-storey building integrates research with a medical unit, magnetic resonance imaging (MRI) suite and therapeutic drug monitoring unit. It offers a spacious laboratory, four new consulting rooms, offices, a library, seminar room and video conferencing facilities. But above all it offers new hope for people with epilepsy.

One of the greatest challenges facing those treating people with epilepsy today is lack of knowledge about the underlying causes of epilepsy. Advanced scanning techniques enable the researchers to see the effects of seizures on a person’s brain. However, it is still not possible to explain how one single seizure happens – what is that final event that causes excess electrical activity in the brain to generate a seizure.

For 70 per cent of people with epilepsy, anti-epileptic drugs can control their seizures but a further 30 per cent do not respond to medication.

Research at this centre focuses on two distinct areas: brain imaging and genetics. One of the most significant innovations at the centre is the installation of a DNA sequencer. This has the potential to revolutionise the way epilepsy is diagnosed and treated based on a person’s DNA sequence or genome. It is a passport to the future and a gateway to earlier diagnosis and more targeted treatments.

Their vision is to unravel the complex genetic architecture of the epilepsies and to take new discoveries directly to patient care, so improving the lives of everyone with epilepsy. Epilepsy Society research centre is key to this vision.

Explore the cutting-edge technology in the research centre here. Step inside the laboratory and see how the DNA sequencer works. Find out more about the research projects taking place at the research centre. 

Epilepsy can be a life-changing diagnosis. Unpredictable seizures, loss of independence, side-effects of medication - all of these can have a devastating impact on someone's quality of life. Epilepsy Society is here to ensure everyone has the best possible chance at accurate diagnosis, treatment and personal support. Support their work by clicking here.


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