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Our CEO says "wow" to latest discoveries in epilepsy

Created:

4 January 2019

In her New Year blog, our chief executive, Clare Pelham, shares her excitement at learning of the latest scientific discoveries in the field of epilepsy from researchers at Epilepsy Society.

As chief executive of the Epilepsy Society I am very fortunate to have an office that sits, quite literally, on the edge of science.

Just a stone's throw from my desk, some of the world's leading scientists are pushing forward the boundaries of research into epilepsy, mining through data that could help us understand a condition that has baffled medics for more than 2,000 years.

I am sure that I have had bigger offices, or offices that are better located in terms of public transport. I have had offices where the windows don't rattle or the leaves from glorious lime trees don't blow in every time the door opens. And I'm sure I've had whizzier printers and photocopying facilities. A coffee machine even.

But I have never had an office that backs on to the UK's only MRI scanner that is dedicated to epilepsy; or that has a rather modest looking, but extremely powerful sequencer that reads people's DNA.  Nor, when I park my car, have I been able to peer in through laboratory windows to admire sophisticated equipment that investigates epilepsy by looking at the brain, eyes and face.

I can never say that a day at Epilepsy Society is ordinary, because it just isn't. And I never take it for granted.

Common epilepsies

The week before Christmas provided the perfect illustration. I admit that I was momentarily totting up the number of mince pies I might need in order to feed all members of staff at our Christmas meeting, when our Director of Genomics and UCL Professor of Neurology, Sanjay Sisodiya, arrived in my office.

Now Sanjay is not a man to wander across for an idle chat; his focus is research and his patients, full stop. So I knew this was important. And indeed it was. An international team of scientists, including our own researchers, have just discovered 16 regions in the human genome that are responsible for some of the more common epilepsies. Furthermore, they have identified an additional 166 drugs that could be repurposed or redeveloped for targeting 21 genes in these areas. So, possible new treatments for epilepsy in the future. I forgot about my mince pies.

I always try to curb my natural instinct to say 'wow' and let my jaw drop. I try to find something suitably scientific to say in response. But frankly, sometimes the only word that really will do is 'wow'.

Genomics industry

At the Epilepsy Society we have been part of the genomics industry since its early infancy. We are thrilled to be integral to a joint commitment between the Government and the Life Sciences Sector to change the UK landscape in terms of life sciences.

But there is nothing quite as tangible or exciting as a scientist knocking on your door to share his findings with you: findings that you know begin to spell hope for thousands of people with uncontrolled epilepsy, but perhaps most significantly, for the young woman I was speaking to recently who has tried multiple epilepsy drugs, has been ruled out for brain surgery, and now believes that genomics is her only hope. Though probably, she thought, not in her lifetime.

Sanjay is a cautious man, particularly when confronted by my hyperbole. The latest results are a small piece in the jigsaw, he emphasised. They will not yet help with diagnosis as they are not specific enough. But even he was smiling and confided that there is more to come as researchers expand their studies and drill down on specific types of epilepsy and the genes that influence them.

So there is hope for the lady in question. And for the 200,000 people in the UK whose seizures don't respond to conventional treatments. Maybe not today, or tomorrow, but possibly in our lifetime? Sanjay wouldn't be drawn.

Genomics England

This year at the Epilepsy Society we have had more than 800 DNA samples sequenced as part of the Genomics England 100,000 Genomes Project. We are now beginning to read and analyse these sequences in the hopes of understanding some of the more complex epilepsies which are often accompanied by severe learning disabilities.

Working with our industry partner Congenica, we are also starting to investigate Sudden Unexpected Death in Epilepsy, trying to identify the genes that might contribute to a person's risk.

And our work on an international scale, as illustrated by Sanjay's latest news, is groundbreaking.

Sitting on the edge of science is awe inspiring and a privilege. There can be few Christmas gifts quite as poignant as the hope that emanates from our research laboratories.

Our amazing supporters

We have a wonderful team of scientists here at the Epilepsy Society. On a daily basis they dig deeper and deeper into the human genome, looking for answers in the small print of our DNA that might explain some of the many causes of epilepsy.

We are always grateful for the amazing ways you support our research through fundraising, whether that involves bake sales or sky diving. Every pound donated is a pound closer to answers and new treatments.

So on that note I would like to say 'thank you' to our researchers, to all our staff and particularly to you, our supporters. We make a great team. I hope that you had a happy Christmas and will have a wonderful New Year. I think we all have a great deal to look forward to.

Find out more

You can read more about Sanjay's research here: Genetic research leads to better understanding of common epilepsies.