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
Category Archives: Opinion
Red Johanna Day, Ninja Turtles and my decade in epilepsy genetics
Where do you see yourself in ten years? You probably might not imagine yourself wearing Ninja Turtle pajama pants, getting up at 4:00 in the morning for a teleconference. For some reason, I kept track of my very early beginnings in epilepsy genetics when I was still a medical student. According to my calendar, today is precisely my tenth anniversary in epilepsy genetics, a day that I refer to as Red Johanna Day. Let’s revisit what happened over the last decade and what I learned from my mentors and friends in the field. And let’s find out about the Ninja Turtles. Continue reading
Here are five AES abstracts you should know about
Summary. The 68th Annual Meeting of the American Epilepsy Society is now over and I would like to use this opportunity to look at five epilepsy genetics posters that caught our attention. The genetics posters at AES this year were a mixture of expansion of known phenotypes and some novel genes that might be worth looking at. Continue reading
Beyond the Ion Channel – and back
Where do all the ion channels come from? I would like to start off with a brief commentary about the current state of gene discovery in human epilepsy. Some of our readers rightfully took offense to my previous statement that gene discovery in epilepsy it over – quite the contrary is true, and I apologize for any confusion that I may have caused. Gene discovery in epilepsy is one of the few areas of human genetics with an ongoing, rapid sequence of gene discovery with a tremendous translational potential. But we also need to reconsider the name of this blog – we are far from being beyond the ion channel. The ion channel concept has made a remarkable return in human epilepsy genetics. Let’s find out why. Continue reading
Five unexpected things I realized at AES this year
Seattle 2014. This year, the 68th Annual Meeting of the American Epilepsy Society was held in Seattle. While much of the scientific content of AES is still under publication embargo and will be the topic of our next post, here are five unexpected things I learned at AES this year. Continue reading
The three challenges of epilepsy precision medicine
Half Moon Bay. I am on my way back from the Precision Medicine Workshop at Half Moon Bay, realizing again that blog posts from scientific meetings are often boring and difficult to write. However, let me try to put together a few thoughts about this meeting. Basically, there are three challenges for epilepsy genetics in the era of precision medicine. Continue reading
Should we stop talking about heritability in 2014?
Genetic epidemiology. Long before the first epilepsy gene was discovered, clinicians and researchers were wondering about a genetic contribution to epilepsy. Some epilepsy syndrome were found to run in families in an autosomal dominant or recessive pattern. In other epilepsies, there was an obvious excess of affected family members in the immediate or extended family. And this is how we got stuck with the concept of heritability. Let’s review the perils and pitfalls of heritability and ask the question whether we should retire this concept in the current era of genomic medicine. Continue reading
When will we have the $1000 epilepsy genome?
Falling prices. The initial Human Genome Project took 10 years and cost more than $3 billion US Dollars. The $1000 genome catch phrase was first used in 2001 and indicated that prices would need to fall significantly to allow for genome sequencing to be used for routine diagnostics. Currently, in 2014, the $1000 genome seems on the horizon. However, will we ever have a $1000 epilepsy genome? Continue reading
Publications of the week – GABRB3, SLC2A1, and SCN1A
No novel genes. This was actually a slow week with respect to publications in epilepsy genetics. No new gene was published, so we’ll focus on three publications that tell us bit more about three genes that we already know. This week’s publications cover new reports on GABRB3, SLC2A1, and SCN1A in brain malformations. Continue reading
Precision medicine in genetic epilepsies – three criteria to consider
Three criteria. You hear the phrase precision medicine quite frequently these days and might wonder what this is all about. In a nutshell, in the context of genetic epilepsies, the basic idea behind precision medicine is to use genetic patient information for treatment decisions. The broader vision behind this aims at improving the lives of individuals with epilepsy by making smarter and faster treatment decisions, which lead to better treatment response and fewer side effects. But how should we assess information on reports of precision medicine in the literature? Here are the three important criteria to assess. Continue reading
