Gene therapy, a hope for untreatable epilepsy?

1% of the population suffers from epilepsy and, although in most cases this condition is easily treated, certain forms of epilepsy resist all treatments. Gene therapy is now a real hope for patients and a great challenge for Dr Elodie Chabrol at UCL, London.

I have been working on epilepsy for 10 years now. Obviously, as a young girl I never dreamt of discovering a treatment for epilepsy. To be honest, I didn’t dream about being a researcher either… But I was always inquisitive and as the years passed, I was attracted more and more to science. I was fortunate to be raised in a family where science was not considered to be solely a boy’s domain and I therefore began my studies in science, encouraged by my mother. As I had always been fascinated by genetics, I began in that field. Since my work linked directly to patients, I loved it because it felt like I was useful. Then the time came to choose a subject for my thesis… And that’s when I stepped into neuroscience and epilepsy and I fell in love with this area of research. Epilepsy is both a very common and a complex condition… for an inquisitive person like me it was a perfect subject!

Epilepsy is a very common condition, 1% of the world population suffers from it: equating to a lot of people to treat! Most forms are easily treatable with antiepileptic drugs and certain more resistant forms can be effectively treated through surgery. In these cases, the surgeon removes the part of the brain responsible for seizures and the patient can return to a normal life, but this is only in cases where the part causing the problem (the focus) is not in a sensitive area, for example the part responsible for speech or movement. For patients where treatment does not work and where the focus is in an area where it is too dangerous to operate, we have to find an alternative.

In simple terms, an epileptic seizure happens when there is a sudden misfiring in a group of neurons, causing the seizure; depending on the amount of neurons and where they are situated, seizures vary enormously: from a seizure accompanied by convulsions, the sort that everyone thinks of, to absences or auditory hallucinations that can sometimes make life very difficult for the patient.

My thesis focused on a form of epilepsy where the seizures are either triggered by auditory stimuli (a telephone ringing for example), or were in themselves auditory hallucinations. My favourite anecdote is an article published in 2006 explaining that Joan of Arc probably suffered from this type of epilepsy. Since then, I always include a small drawing of Joan of Arc in my presentations!

My current project is very simple: to treat epilepsy that is resistant to treatment. And what will my weapon be? Gene therapy, which involves delivering a gene into the neurons in order to regulate them and stop the seizures.

Researching a condition is captivating, but not always easy because we hear stories of patients and all that they are going through… but that does provide motivation and a desire to be able to treat these conditions.

I love science and it seems to me that I have found my vocation; even though it is still very much a masculine world, things will, and must, change. We must not be afraid of following our vocation, just because some people think that science is not for women. If we are passionate, our gender should make no difference, especially since we are not talking about a job where you need to be physically strong… A little anecdote about what it is to be a woman in a male team: when I was the only women in my team carrying out surgery (now there are two of us!) and when I wanted to begin my experience, I found that I had to climb onto stools to get the things I needed… everything was on high shelves… and it was heavy! I was not discouraged though, I moved everything down to my level… And I think that they didn’t even notice the difference!

So I have a message for all the girls and women who want to enter a masculine world: don’t be afraid to shake up their ways a little! 

For Women in Science

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