Live at Covent Garden – the ERC Starting Grant Interviews

On stage. I just got back from Brussels where I had to defend my ERC Starting Grant in front of the Neuroscience Panel. The European Research Counsil (ERC) Starting Grants are prestigious excellence grants and I was lucky enough to be invited for the famous second round. This second round requires the applicants to go to Brussels in order to give a 10-15 min presentation and defend the application on the 24th floor of the Covent Garden building. It provides a wonderful view of the city, but nobody really bothered taking this in. Let’s use the opportunity to quickly discuss grants, funding and the future of epilepsy genetics. Continue reading

De novo mutations in Infantile Spasms and Lennox-Gastaut Syndrome

Quantum leap. At the Annual Meeting of the American Epilepsy Society, the Epi4K consortium presented the first data on exome sequencing in epileptic encephalopathies. This data is the most exciting finding in the field of epilepsy genetics in 2012 so far, as it provides a deep insight into the genetic architecture of Infantile Spasms (IS) and Lennox-Gastaut Syndrome (LGS). With the findings presented by the Epi4K collaborators, the epileptic encephalopathies are joining a group of neurodevelopmental disorders with a significant burden of de novo mutations.  However, there are important differences that set both IS and LGS apart from diseases like autism, intellectual disability and schizophrenia. Continue reading

Missed SCN1A mutations in Dravet Syndrome – a matter of degrees

Back from AES. I have just come back from the 66th Annual Meeting of the American Epilepsy Society and I would like to share some of the most recent findings that were presented at this meeting. Since we felt that our presentation on the “re-discovery” of SCN1A mutations in SCN1A-negative patients with Dravet Syndrome received quite some attention, I thought that I would share this part of our presentation as a brief screencast. In particular, I would like to thank Anna-Kaisa Anttonen and Anna-Elina Lehesjoki for providing us with the trace files. And of course thanks to everybody in RES who was involved in this.

SpotOn 2012 is on air

The biggest European meeting on Science online – policy, outreach, tools – started this Sunday. SpotOn brings  open source coders, librarians, scientists from a variety of fields, and publishers together in London.

You can follow the keynotes and sessions online and evaluation and comments can be followed in real time on Twitter. #solo12 is hashtag of the overall conference, the individual sessions have their own tags. Continue reading

The London 2012 ECE in retrospect

The Shard. London has changed quite a bit since my last visit and I didn’t really pay that much attention to the Olympics, I must admit. Both became clear to me when I left the train at London Bridge Station. There it stood in front of me: The Shard. London’s new high-rise building, the tallest skyscraper in the European Union. And I had no idea that it even existed. On a smaller scale, there were also a few surprises for me at the ECE in the world of epilepsy genetics. Continue reading

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

21st century digital boy: The Kiel Young Investigators’ Meeting

The children of the genomic revolution. There aren’t many possibilities for young researchers in epilepsy research to get together independently. Accordingly, we were in the fortunate position to host the first meeting for young researchers in pediatric epileptology in Kiel last week. I was asked by some participants to write a post on this. There were, however, two very specific instructions. First, I was asked to write about “Generations X and Y” and the resulting conflicts in science. Secondly, I was told not to write an ordinary meeting report, but something different… Continue reading

The exome fallacy

Are you fully covered? My experience with a phenomenon I shall call exome fallacy began in 2011. While browsing the exomes of a few patients with epileptic encephalopathies, we wanted to have a quick look at whether we could exclude mutations in the epilepsy gene SCN1A in our patients through exome data. As some of you might already guess, the words “exome” and “exclude” don’t go well together and we learned the hard way that each individual exome covers certain parts of the gene quite well. However, if you expect your exome data to have sufficient quality to cover an entire gene in several individuals, you end up disappointed. But there is even more to the exome fallacy than you might think… Continue reading

Conferences on Twitter

Bioinformatics at large. The ISMB conference is a big event and summarizing seven parallel sessions requires additional channels than physical presence. Luckily, there is the Internet. A sufficient number of scientists report of the current session on social media tools like Twitter. In previous years, the conference was supported by FriendFeed but the slow demise of the platform no longer made it possible. Continue reading

Predicting the effects of mutations

From left to right: Sean Mooney, Rachel Karchin, Andre Frank, Shamil Sunyaev, Emidio Capriotti.

How well can we predict the effects of mutations that change the protein sequence? Framed by the the ISMB conference, the largest bioinformatics conference the SNP special interest group met on Saturday the 14th, 2012,  moderated by Emidio Capriotti and Yana Bromberg to discuss current state of the art. Here’s a summary with links a set of tools to try if you study variants.

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