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

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

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

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

This is what you will see in epilepsy genetics in the next five years

Welcome to our new blog. We have moved our blog to a new server, and this is the first post on our new platform. Let’s start out this new era with a general overview of what will happen in the field of epilepsy genetics in the next five years. We definitely plan to follow the developments as we did over the last two years. Here are the six things that we will look back upon in five years. Continue reading