Exome era. When a consortium disappears, where does it go and what does it leave behind? I realized last week that exactly 10 years ago, the EuroEPINOMICS Rare Epilepsy Syndrome (RES) consortium pushed the button for the second round of trio exome sequencing, a pivotal event in the history of epilepsy genetics that led to the discovery of more than a dozen genes for developmental and epileptic encephalopathies. The fact that this critical juncture in the history of epilepsy gene discovery went largely unnoticed lies within the nature of research consortia – they form, they work, and they disperse. However, as EuroEPINOMICS was formative for me as a junior researcher, I wanted to dedicate this blog post to the research consortia of the early 2010s and the golden era of epilepsy gene discovery, when I was a EuroEPINOMICS kid.
Tag Archives: ESF
The three challenges of epilepsy precision medicine
Half Moon Bay. I am on my way back from the Precision Medicine Workshop at Half Moon Bay, realizing again that blog posts from scientific meetings are often boring and difficult to write. However, let me try to put together a few thoughts about this meeting. Basically, there are three challenges for epilepsy genetics in the era of precision medicine. Continue reading
Invitation for the EuroEPINOMICS General Assembly in Tübingen
We need to talk. Much has happened in EuroEPINOMICS land ever since the launch of this Eurocores activity in 2011. Back then, exomes were still a realistic, but somewhat remote possibility and the complexity and ambiguity of the human genome was only beginning to be revealed. Now, roughly two years later, we have witnessed major breakthroughs in understanding epilepsy through genetic findings and we have generated large datasets on common and rare epilepsy syndromes that require an unanticipated effort for data mining and sharing. The EuroEPINOMICS Consortium will hold its 2013 General Assembly in Tübingen, Germany, from 30.10-01.11.2013. This meeting will connect all four Collaborative Research Projects and will be the central meeting of this year to jointly discuss our current activities and plans for the future. Continue reading