Biology

Sequencing seizures: discovering new genetic mutations behind epilepsy

Neural Connections In the Human Brain

Neural Connections In the Human Brain (Photo credit: Image Editor)

The human genome project — which published a completed sequence of our entire genetic code in 2003 — introduced the world to large-scale genomic sequencing efforts. Since then, genome sequencing has become both faster and far more affordable. The result is that researchers and geneticists are now employing powerful sequencing strategies to investigate a great number of conditions — many for which a genetic cause has long been a mystery.

Epilepsy is one such condition. In the latest episode of Up Close I spoke with two researchers who are using genomic sequencing technologies to identify the needle — or in this case, the needles — in the haystack. They are using exome sequencing to look for which genes out of the 20 and a half thousand-odd genes in our genome are the faulty ones that cause epilepsy.

My two guests were neurologist and epileptologist Professor Sam Berkovic, Director of the Epilepsy Research Centre, and Laureate Professor in the Department of Medicine at the University of Melbourne; and Professor David Goldstein, Professor of Molecular Genetics & Microbiology, Professor of Biology and Director of the Center for Human Genome Variation at Duke University.

Their work is described in this recently published Nature paper (paywall).

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