View Full Version : Another genetic find, this time for epilepsy

08-19-13, 01:59 PM
So, I get stuff in my inbox from the NIH all the time. If you're interested in updates and new research and findings, you can subscribe to all kinds of notifications. Here's one I thought was interesting:

NIH-funded study discovers new genes for childhood epilepsies (

Why is it interesting? Because it uses a technique called "exome sequencing" to detect epilepsies that are caused by genetic mutations, rather than heritable genetic defects.

“It appears that the time for using this approach to understand complex neurological disorders has arrived,” said David Goldstein, Ph.D., director of the Center for Human Genome Variation at Duke University Medical Center, Durham, N.C., and a leader of the study. “This moderately-sized study identified an unusually large number of disease-causing mutations and provides a wealth of new information for the epilepsy research community to explore.”

The article also points out that this technique is possibly going to be quite useful in studying other complex neurological disorders. I can see how - genetic tests can uncover components that might contribute in heritable conditions, but being able to look at a gene sequence and find a de novo mutation so it can be studied and its effect determined will be an incredible tool.

Right now, it's giving doctors a tool to diagnose two devastating childhood epilepsies, which increases the chance of developing successful treatments.

The article gives a good explanation of how these mutations work, what exome sequencing is, and explores some of its potential. Even if you are not affected by a seizure disorder, you might be interested in learning about this for later when it can be applied to other conditions.