Karl Marx, Hauts Forneaux, and the impact factor

Porta Nigra. This is part two of our travel diary. After a one hour drive through the rural Eifel mountains, you start a seemingly endless descent upon the Moselle Valley to get to Trier. A former Roman town with old ruins, a former summer residence of local royalty, a cathedral in redevelopment for 1500 years and Germany’s oldest city, Trier is rich with history. We didn’t know any of this as it was simply meant to be our stop on our way to Luxembourg, but it is hard to take a walk through the city without noticing. Yet Trier’s most famous son is a controversial historical figure who left to never return before starting any of his far-reaching work. Here is what we can learn from Karl Marx about the exchange value of scientific work in 2016. Continue reading

Five almost forgotten blog posts that are relevant in 2016

Happy 400. Even though I have to admit that my blogging speed has decreased considerably over the last 18 months, we managed to celebrate a small milestone last week. We published blog post #400. As there are highly popular and virtually forgotten blog posts, I wanted to use this opportunity to draw your attention to five blog posts out there that you might want to know about. Continue reading

Research parasites and symbiotes

Parasitic. In the dramatic language that was somewhat reminiscent of the current US primaries, the New England Journal of Medicine warned of an emerging class of researchers referred to as research parasites, researchers who had nothing to do with an initial study, but re-analyze data without being connected to the initial study design, possibly for their own purposes. The NEJM editorial was accompanied by a call for collaborative research on a coordinated basis rather than analyzing data without working with the researchers who were initially involved in the generation of the data. Let’s discuss whether genetics is currently under threat from research parasite infestation and whether this may actually be a good thing. Continue reading

My name is Jonas – a blizzard blog post

Do you want to build a snowman? During this weekend, winter storm Jonas descended upon the Eastern United States. Delaware County became covered under about two feet of snow, basically shutting down public life in the Philadelphia and the surrounding suburbs. Being trapped in the house with the kids exhausted from playing outside gave me the opportunity to catch up on my blogging duties and to engage in creative writing. Besides a reference to the 1994 Weezer alternative rock anthem, here is what snow storm Jonas told me about science. Continue reading

Launching the Epilepsy Genetics Initiative – Go EGI!

Launch. This week, the Epilepsy Genetics Initiative (EGI) was launched. EGI was founded by Citizens United for Research in Epilepsy (CURE) and represents a large database for diagnostic and research exomes that will guarantee regular re-analysis of exome data, which is particularly relevant for the large number of exomes that we think are negative. Here is a brief blog post why all exomes should eventually find their way into EGI. 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

A genetic counselor’s wish list for epilepsy genetics in 2015

Mt. Rainier. After our recent posts about the 2014 AES in Seattle, we received an email from Beth in Boston, highlighting some of the issues that genetic counselor face in epilepsy genetics when dealing with next gen sequencing data. Beth drew up a wish list for 2015 and asked us for comments. Here is a brief discussion between Beth and me on how high throughput epilepsy genetics sometimes comes to grinding halt in clinical practice. Continue reading

These are the top 10 epilepsy genes of 2014

Top 10. 2014 has been a very productive year in epilepsy gene discovery and with our final blog post this year, we wanted to provide a brief overview of what has been pertinent this year. From the multitude of novel genes identified this year, here are the 10 most relevant findings – including some genes that you probably didn’t expect. Continue reading