Three things you didn’t know about epilepsy and genes

Fall colors. Just a brief summary of how this post originated. Eckernförde is a small city north of Kiel and the weekly Sunday destination of my daughter and me because of the wave pool.  This past Sunday, daylight saving and the fact that she didn’t like her dinner had confused the little girl, and we had been awake since 4AM. As a consequence, she fell asleep on the way, and I kept driving to let her sleep. We made it as far as Haddeby, and I used this time to mentally put a post together that I had been planning for some time. These are the three things that are often misunderstood with regards to epilepsy and genes. Continue reading

SpotOn London 2013 – communicating science online

Outreach. SpotOn is a series of community events for the discussion of how science is carried out and communicated online. SpotOn London (November 7-9, 2013) is organized by the Nature Publishing Group and represents the flagship conference of the SpotOn series. SpotOn discussions fall into three broad topic areas – policy, outreach, and tools – and this site collates the conversations and other archive material around all of the events. Within the outreach track, Roland and I will contribute to the session about scientist-to-scientist communication using blogs and other online tools. Here is why this pertains to you: in a semi-strategic last-minute move, we managed to reserve one extra ticket that we would like to give to a young scientist who would like to join us in London. Short notice? Spontaneous ideas are sometimes the best ideas. Also, for everybody else, there is one last chance on Friday at 12:00 London time to get tickets. Continue reading

Three things the beach taught me about science

Endless summer. I am quoting from a representative email that I received this summer from a fellow scientist in the EuroEPINOMICS consortium: “XYZ will reply to you once he is back from his holiday – IF he comes back”. A metereological anomaly had given us one of the longest and most intense summers that I can remember. No rain for roughly four weeks, a new temperature record and a heat that was so intense that the tarmac on the highways started to melt. Accordingly, the motivation in EuroEPINOMICS land to leave the beach behind and return to the office was at an all time low. We spent our summer holiday in Marielyst, Denmark and I just wanted to share some thoughts on how the world of science looks when you’re at the beach. Yes, this post is not too serious. 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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10 strategies to help you get papers out faster

The one question. Early during my doctoral thesis I was confronted with the one big question in life science. The one question that you should always ask yourself when doing research. “What is the paper going to look like?” Don’t get me wrong, there is much, much more to science than publishing, but in this post, I would like to reflect on our attitude towards publications and suggestions how we could do better. And this also includes myself. Continue reading

The Pareto Principle versus the Long Tail

80/20. In every scientist’s life there is a point when someone points out to you that you should not waste your time and that you should work more efficiently. If that someone, be it your boss, supervisor or close friend with a superior track record, is inclined to resort to management language, you might hear about the Pareto Principle or the Eisenhower matrix. Follow me on a brief motivational blog post that your boss probably doesn’t want you to read – telling you why it is good to keep doing what you are doing. Continue reading

How to deal with scientific disappointment

Difficult times. The last two weeks were hard for me scientifically. In addition to having two papers rejected within a week, I learned that a major grant proposal that was rejected. Particularly the latter I didn’t take well, since I was quite convinced that we would make the next round. Also, this was for a project where funding was more than necessary. We all know scientific disappointments in their various forms, and I thought that I would dedicate a post to this topic. Please follow me while I stumble through the internet, looking for the science of disappointment. Continue reading

What’s in a phenotype? – the EuroEPINOMICS BENCH database

The backbone. As we have started a new round for BENCH introductory sessions with new collaborators, I thought that it might be timely to talk a little bit about our BENCH phenotype database and the concepts behind it. In addition to the purely technical aspects, there is a more fundamental question behind this: how do we want to document and store epilepsy phenotypes for research purposes, how do we find the balance between precision and efficiency? Continue reading

Traveling with Lennox – atonic vs. astatic seizures and the Sea of Galilee

Taking the gloves off. Historically, epilepsy is called the falling sickness because of episodes when patients suddenly crash to the ground and lose their posture. These seizures are called atonic or astatic seizures and are often the most troubling events for patients. During these events, patients may seriously hurt themselves. From the epileptological point of view, there is a long debate regarding the nature of these events. Are they purely due to loss of posture or are they associated with a brief myoclonic seizure? Lennox quotes Pierce Clark who states bluntly that describing an astatic seizure without a preceding jerk is due to “faulty clinical observation”. This is when Lennox takes the gloves off.

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The rise of the Channelopathist

Gotham City. Strange sightings have recently occurred in EuroEPINOMICS land. Scientific evildoers and exomic villains tremble in fear. The field respectfully speaks of a masked superhero roaming the floors of major genome centers. His superpowers appear beyond description. Witness the rise of the Channelopathist – and a slightly unusual blog post on epilepsy genetics. Continue reading