Epilepsy Genetics Initiative – A Signature Program of CURE from CUREepilepsy on Vimeo.
The Epilepsy Genetics Initiative. If you had told me last week that the next era of epilepsy genetics would be announced by an animated cartoon, I wouldn’t have believed you. Earlier this week, the Epilepsy Genetics Initiative (EGI) was launched, an emerging large exome repository that will help us connect dots in epilepsy genetics research by centralizing genetic data for research. These are the three things that I have learned from the EGI launch.
What is EGI? First of all, let me tell you what EGI is about. The Epilepsy Genetics Initiative is an exome database established by CURE (Citizens United for Research in Epilepsy) with key input from NINDS (National Institute of Neurological Disorders and Stroke) and the Epi4K consortium. EGI will be the repository for exome data generated in a clinical and research context. Within the next three years, it is expected that more than 1000 exome datasets will be entered into the EGI database – and made available for epilepsy research.
Why do we need EGI? The last years have shown that simply generating deeper and more comprehensive genomic data is not enough. Even when you know the full genome sequence of your patient, you won’t be able to pinpoint the causative gene in many cases. Finding the one causative alteration in the river of rare variants is extremely difficult and needs context – such as the information that other patients with similar phenotypes carry mutations in the same gene. If the gene in question is only mutated in 1 in 1000 patients, you have a problem – how do you find a second or third patient if genetic data is available, but dispersed over dozens of research groups and laboratories? One way of solving this is by bringing the data together and making it available centrally – this is exactly what EGI will do.
Three lessons learned. EGI has told me three important lessons about the future of epilepsy research and the changing landscape of genomic medicine.
1 – EGI is run by a patient organization. EGI is mainly initiated by a patient organization. While there is an increasing struggle to obtain grants for genetics research in the field of epilepsy, patient organizations step in and fill the gap. Epilepsy genetics in the future will be much closer to patients and patient organization than in the past – and this is a good thing.
2 – Hello, big data. EGI does not generate exome data, it collects existing genetic data. Again, if you had put the need of curating data to me two years ago, I would not have understood where you are coming from. Wouldn’t you put the funds into exomes instead? With exome data soon to be available ubiquitously, the priorities are changing. Data needs to be available for a second look. Not only tomorrow, but also in two years from now. How do you provide a framework for this? By making data available centrally for the research community with tools like Varbank, gem.App or EGI.
3 – It’s about outreach. The EGI animation put a smile on my face yesterday. I am a big fan of the RSA Animate style. It’s brief, clear and entertaining explanation of what EGI stands for. It will quite likely become the first clip on epilepsy genetics to go viral. What is the lesson from this? Especially over the last 12 months, I have learned to appreciate science outreach – to the lay public, patients and professionals. The EGI animation is a strong reminder that it takes effort and skill to get the message across. In fact, I believe that online science outreach will become an essential part of large collaborative projects in the future. Therefore, it’s time to build the skills for this. Get used to the idea of generating impact by generating clicks.
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