E2 – collaborations and lessons learnt

E2. The advent of next generation sequencing allowed unimagined scope for large scale genetic studies. It quickly became clear that whilst new technologies could be used to solve single families, major advances would only occur by collaboration. This led to the formation of a number of Consortia – in the United States EPGP leading onto Epi4K and in Europe EuroEPINOMICS and EpiRES etc as well as a number of smaller consortia. Even with these multicentre collaborations it was clear that “bigger was better”, and attempts were made to try and synergize efforts across continents.  Continue reading

DNM1 encephalopathy – interneurons, endocytosis, and study group

Dynamin 1. De novo mutations in DNM1 coding for Dynamin 1 are increasingly recognized as a cause for epileptic encephalopathies. However, given the role of Dynamin 1 in endocytosis in a large number of cells, the precise mechanisms how mutations may result in seizures are poorly understood. Now two recent publications in PLOS Genetics and Neurology Genetics explore the functional effects of epilepsy-related DNM1 mutations. The publication of both manuscripts is also a timely reminder to announce our international DNM1 study group that has the aim to better understand the phenotype of this disease. Continue reading

How to get started in epilepsy genetics – The Channelopathist’s third birthday

Happy birthday. The Channelopathist turned three last week, i.e. exactly three years ago we started writing regular blog posts on epilepsy and genes, starting with a post on how SCN2A was rediscovered in neurodevelopmental disorders. Since we had many new subscribers last year, I thought that I could use this opportunity to write a brief post on how you can get started on Beyond The Ion Channel and how you can navigate our blog. Continue reading

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

Invitation for the 2013 Young Researchers Meeting

This time, the desert. After the successful meeting for Young Researchers in Epileptology in Kiel last year, we would like to invite young and senior researchers in the field for the 2013 meeting, which will take place on December 14th, 2013 in Sde Boker, Israel. This year’s meeting is embedded in a small international meeting from Dec 12th-14th on epilepsy genetics with the primary aim of bringing together researchers from Israel and Palestine. As last year, we would like to extend the invitation for this year’s Young Researchers Meeting in Epileptology to all young scientists involved in the field. Don’t forget to bring water and sunscreen; we’re going to the Negev Desert. Continue reading

Reinventing a consortium – the RES data sharing policy

Share or be shared. During the last two weeks, the RES consortium has approved a new data sharing policy that will allow us to work with increased transparency and accountability within our upcoming projects. This new data sharing policy is a consequent extension of the previous protocols we had in earlier consortia – with one major difference. This time, it’s in writing. While we are getting ready to tackle the large dataset on epileptic encephalopathies released by the Sanger Institute, we took a moment to talk about how things should be running.

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See you in London – getting ready for the 10th European Congress of Epileptology

London calling. In the epilepsy field, there are annual and bi-annual meetings that are worth attending. One of these meetings is the 10th European Congress of Epileptology (ECE), which will be held from September 30th to October 4th, 2012 in London. With Nobel Lecture Series, entertaining debates on controversial issues and interactive sessions with a “clubroom atmosphere”, the organizers will try out a new format for the European epilepsy meeting. Let’s give you a brief overview what this congress will hold for scientists interested in epilepsy genetics. Continue reading

The meeting of the 1000 exomes

1000 exomes. The EuroEPINOMICS consortium will host its first data analysis meeting at the Luxembourg Centre for System Biomedicine from July 5th to July 7th, 2012, to discuss the results from the high-throughput genomic platforms in the CoGIE, RES, EpiGENet and Epiglia consortia. We will present the first results of the four EuroEPINOMICS programs generated by high-throughput genomic technologies and discuss the overall direction of genetic analysis for the next years, which should soon encompass the proverbial 1000 exomes. In preparation, let’s revisit high-throughput epilepsy genomics. Continue reading