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developments in epilepsy science

Professor Sanjay Sisodiya, professor of neurology was speaking at the 2016 Epilepsy Society Conference at Westminster Central Hall.

Through genetics we are aiming to get the best treatment for everyone with epilepsy. This is happening not just in the UK but across the world. For example, President Obama is investing huge resources into making precision medicine a reality for everyone in the United States.

Precision medicine combines precise diagnosis with precise data analysis and precise treatment. It is about getting the right treatment to the right patient at the right time.

This presents specific challenges with epilepsy. We know that it is not one condition but rather a collection of different types of conditions. For each individual we must work out the type of epilepsy they have and what will be the right treatment for them. This may be a particular epilepsy drug or it could be surgery or a dietary therapy.

Our goals are nothing new. Almost 100 years ago, the father of British neurology Sir William Gowers said that we should strive by every method possible to understand what is happening for each individual. This is now becoming more of a reality through the application of science.

There are many occasions when it may not be clear what is happening with a person's epilepsy. The picture may be complicated with lots of seizures, lots of medication and admissions to hospital. All these can have a huge impact on daily life.

Science is helping us to undo this complicated picture by building up layers of information. First of all we take a detailed history of the person's epilepsy. We then carry out tests –for example, MRI, EEG, blood tests. Now we are starting to look at a person's genetic make-up so that gradually we begin to understand more about epilepsy in some people and how we can improve their treatment.

Aidan is a young man who illustrates how genetics can help with diagnosis and treatment. Aidan was referred to Epilepsy Society with multiple seizures and was constantly in and out of hospital. By listening to his history and advising for him to undergo genetic tests, we were able to confirm that Aidan has Dravet syndrome.

This is a type of epilepsy that we know a reasonable amount about. We know that with Dravet syndrome some treatments will work well, while others may make things worse. In Aidan's case we have been able to make drug changes that have had a huge benefit for him.

Aidan's seizures have become much less frequent. He is speaking again and finding out about the world. He is developing a sense of humour and even a sense of sarcasm.

Genetics is playing a huge part in helping to deepen our understanding of epilepsy.  But to really make progress it is important for us to join the world of big data.

Looking at one person with epilepsy would be like looking at one oak tree in a forest of oak trees. We could learn a limited amount of information by studying that one oak tree but if we look at the whole forest we could learn so much more.

Back in the '90s we started to use magnetic resonance imaging (MRI) to help with the diagnosis of epilepsy. Following the analogy of the oak trees, each individual MRI scan would be a tree. By comparing many scans we have been able to learn much about the structural causes of and impact of epilepsy on the brain.

With genetics we are now looking at the acorns but again it is only by looking at many acorns that we are able to start unravelling the genetic architecture and understanding its impact.

Epilepsy Society is joining the world of big data. We have been leading on EpiPGX, a multi-centre project involving scientists from across Europe who have been investigating the way a person's genes affect their response to different medications.

We hope that this will help us to identify genome-based biomarkers that will help work out who will respond to which drug, at which dose and with the fewest possible side effects.

Another example of how genetics can help is a patient whose epilepsy was affecting his ability to think and speak. Although we could see an abnormality on his scan, it was only by looking at his genetics that we were able to establish the cause of his epilepsy.

We were then able to identify a drug on the market which though not licensed for epilepsy was exactly the right drug for this person's epilepsy. This is called repurposing drugs. Once the drug was administered, the person's seizures became much better - in fact they are hardly having any at all now. They are enjoying a much better quality of life and interacting with family.

We are not going to achieve these sort of results with every single person with epilepsy because we are still at the stage of learning and discovery, but it shows how genetic testing can make a difference. 

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