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€2.5 million genomic research programme brings hope of seizure-free life for people with epilepsy

  • New partnership launched on International Epilepsy Day (11 February 2019) could mean life-changing treatments for people with epilepsy
  • Genomic sequencing could lead to 200,000 people with uncontrolled seizures in the UK having the chance of more effective, personalised medication
  • Unique UK-Brussels collaboration stands to benefit up to 17 million people across the world with epilepsy

A unique collaboration between UK charity the Epilepsy Society, and Belgian biopharmaceutical company, UCB, could bring life-changing treatments to people with epilepsy whose seizures do not respond to current treatments.

There are 600,000 people in the UK with epilepsy and one third of them - 200,000 - live with uncontrolled seizures, often affecting their ability to work, drive, socialise and support a family.

But a pioneering €2.5 million genomics research programme being launched by the UK-Belgium partnership offers greater hope than ever of a more personalised, targeted approach to diagnosis and treatment based on each person's unique genetic make-up.

Scientists expect that their research could result in improved, better focussed treatments for people with epilepsy, potentially leading to a life free from seizures.

And they believe that the collaboration's global positioning has the potential to bring new treatments on a world-wide scale to people whose epilepsy is currently difficult to treat.

Changing lives

The charity's genetic research has already begun to change lives. Danny, 33, and Billy Knight, 29, from Essex have lived with uncontrolled seizures, often experiencing as many as 1,000 seizures a day. It was only when the Epilepsy Society team investigated the young men's genetic make-up that they were able to diagnose and treat a rare underlying creatine deficiency which had resulted in problems including developmental delay, learning disabilities, epilepsy and challenging behaviour.

Now, thanks to the prescription of high-dosage creatine supplements, both brothers are seizure free.

"This has made an enormous difference to their quality of life," said their father Richard Knight. "Had they been diagnosed sooner, there's a very good chance that the boys would've led a reasonably normal life and probably would not have had epilepsy. Hopefully, this will encourage more people with epilepsy to seek treatment." You can watch their story here or at the bottom of this article.

Danny Knight with his father, Richard Knight

Danny Knight (right) with his father, Richard (left)

100k Genome Project

Over the next five years the Epilepsy Society and UCB will work collaboratively to develop an improved and deeper understanding of the complex nature of epilepsy through genome sequencing and analysis of genetic biomarkers.

The work builds on initiatives such as Genomics England's 100,000 Genomes Project which has made it possible to map and investigate genetic characteristics at scale and in a shorter timeframe.

But what makes the Epilepsy Society/UCB collaboration unique is the detailed clinical data that it is able to harness. Epilepsy Society's Chalfont Centre in Buckinghamshire provides tertiary care for people with the most severe and uncontrolled epilepsy, often those who may feel little hope of ever living a seizure-free life. Its integrated medical care and clinical research presents an unparalleled opportunity to progress knowledge and understanding about a much misunderstood condition.

The long-term aim of the partnership will be to use key insights from research to design and develop improved, personalised approaches to the management of epilepsy, tailoring it to individual needs and genetic characteristics. The goal is for every person with epilepsy to have the right treatment from the point of diagnosis.

Professor Sanjay Sisodiya, Professor of Neurology at UCL and the Epilepsy Society's Director of Genomics, who is leading the research partnership within the charity said: Advances in genomics present exciting potential for a paradigm shift in epilepsy. We hope to use them to gain a much better understanding of the disease trajectory, improving diagnosis and treatment for people living with epilepsy. Our hope is that by embracing genomics we will be able to provide personalised care for people with epilepsy, eventually helping us to identify the right treatment, first time.”

Epilepsy should not be impediment to full life

Clare Pelham, Chief Executive of the Epilepsy Society, said :“ Our goal is that epilepsy should be as insignificant in a person's life as perhaps having freckles - no impediment to living a full life, driving a car or holding down a demanding job. We really believe that genomics gives us the tools to make this a reality and we are delighted to be collaborating with UCB, bringing together our cutting-edge science and world class technology.

"Already in clinics we are making diagnoses that are changing people's lives, giving those whose days have been overshadowed by the possibility of a seizure, the chance of a seizure-free, and a care-free, life. And that is immense. We hope, in the future, this sort of diagnosis will become available to everyone across the UK.”

Working together with the Epilepsy Society we now have an exciting opportunity to develop unique insights into this condition, which will provide a platform to inform our scientific and drug discovery approaches. “explained Dr Dhaval Patel, Executive Vice President and Chief Scientific Officer at UCB. “We hope this collaboration could help in the development of tools to better identify difficult to treat patients earlier, and ultimately to develop tailored and targeted medicines which could bring significant value to these patients in the future.”

The Knight Brothers' story