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Sequencing seizures: Discovering new genetic mutations behind epilepsy

Neurologist Prof Sam Berkovic and molecular geneticist Prof David Goldstein describe their work uncovering chance mutations that cause childhood epilepsy.

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DYANI LEWIS
I'm Dyani Lewis, thanks for joining us. 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 and today on Up Close I am joined by two researchers who are using genomic sequencing technologies to identify the needle, or in this case the needles, in the haystack. They are looking for which genes out of the 20,500-odd genes in our genome are the faulty ones that cause epilepsy. My first guest today on Up Close is neurologist and epileptologist Professor Sam Berkovic. Sam is director of the Epilepsy Research Centre in Melbourne and Laureate Professor in the Department of Medicine at the University of Melbourne. Welcome to Up Close, Sam.

SAM BERKOVIC
Thank you, Dyani.

DYANI LEWIS
I'm also joined by Professor David Goldstein, Professor of Molecular...

The full text of this article can be purchased from Informit.