Gamification of life science – The CAGI challenge

Everybody wins. The scientific publication process is not ideal to find the best bioinformatics methodology for a given problem. Most predictions are not performed blind as our data sets are so small that separating them in to several disjoints sets for training and testing purposes is not possible or sensible. The structural biology community has started to tackle the problems by establishing a competition called Critical Assessment of protein Structure Prediction (CASP). For example, the solution of the 3D structure of a protein is announced but the data withheld for a couple of months to give computational groups time to submit a prediction which is then evaluated by an independent team. A concluding conferences crowns the best prediction groups. In recent years, systems biology and sequence interpretation produce sufficient data to make similar challenges possible. Continue reading

Face to face – atypical face shape and CNVs in epilepsy

Face scan. A large high-tech camera scans your face in 3D and – using more than 30,000 data points – extracts information from your face that you were not aware of including details of your genetic make-up. What sounds like dystopic Gattaca-like science fiction at first is actually an interesting novel technique to learn more about epilepsy-related microdeletions. It seems that some of their effects might be hidden in subtle facial features that might help understand how these genetic variants contribute to disease. 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

Rolandic Epilepsy Explained?

Soundbites. I am very happy to have been part of the 1st Waterloo Foundation Meeting on the Idiopathic Focal Epilepsies of Childhood, which took place at King’s College in London on September 29th, 2012. This meeting was exclusively dedicated to everything rolandic. While the 10th European Epilepsy Congress is just getting started, we thought that we could provide you with a few soundbites from this meeting. And — by the way — rolandic epilepsy is far from being explained. Continue reading