A how-to guide. July is going to be a slow month for the EuroEPINOMICS blog. Both Roland and I are going on vacation and we will use this time to migrate the entire blog to a more stable and supported server environment. While this always sounds like a quick thing to do, it involves much testing, experimenting and debating and that’s why the Channelopathist will be closed for the month of July. However, we wanted to use this time to provide our readers with brief instructions on how to navigate this blog and our past entries. Speaking of vacation, how far have you traveled beyond the ion channel?
Ion channels and beyond. My personal preference for this phrase stems back to my first experiences in epilepsy genetics. When I started working in the field in late 2005, everything seemed to be in place. Monogenic epilepsies were caused by mutations in ion channel genes, and for the sporadic epilepsies, well, we believed that the right channels were just waiting to be found. One review (and I don’t remember the reference…) went as far as proclaiming “the channelopathies”, the disease caused by ion channels, an elite club that was waiting to accept new members. Much has changed since these ideas were first conceptualized. Microdeletions have emerged as risk factors for epilepsies more relevant on the population level than any monogenic channelopathies combined, and large-scale massive parallel sequencing studies have so far failed to find the ion channel genes that we simply didn’t see. Quite the contrary, the ion channels discovered last year raise more questions and only represent a small fraction of the latest wave of gene discoveries in monogenic epilepsies. And discussing these findings is what this blog is about.
Navigating this blog. Basically, we have been writing about three major topics on this blog over the last year, which is also reflected in search terms that lead readers to our blog. These three main areas are (1) epilepsy genes, (2) exomes & bioinformatics and (3) life as a scientist.
Epilepsies and genes. First, we have discussed gene findings in epilepsies and other neurogenetic disorders. Our most popular posts on this topic were two posts on gene panel analysis and two posts on Dravet Syndrome. This last sentence should show you already how you can navigate this blog. Our posts are interlinked and one post usually connects with 5-6 other posts through specific keywords. Some topics echo through several posts, and by following the keywords, you should be able to get a fuller picture of the topic. Also, within this area, you will stumble upon several posts on microdeletions.
Bioinformatics & exomes. The last 12 months were a steep learning curve for me with regards to understanding what I am actually doing. During my journey through the land of exome analysis, we have taken our readers along and have discussed the Excel contagion, how to identify de novo mutations in exome data and what to do with all this large-scale data that is the result of modern massive parallel sequencing methods. Personally, I have learned a lot and I hope that the online trail that we have left for you might help answer some of the questions that you had about exomes and how to deal with them.
Life as a scientist. Another popular post was a brief write-up of suggestions on how to get scientific papers out faster. This post, in addition to posts on current grant applications, scientific disappointment, family and science, received very positive feedback, mainly from younger scientists or senior scientists forwarding this to their more junior colleagues. While it always feels a bit strange to write something personal on this blog, we have learned that these posts on everyday issues in the life of a scientist are well received. And this is also how this post ends – we are switching off this blog for a month to do what we have almost forgotten how to do – vacation.