Neurologist Prof Sam Berkovic and molecular geneticist Prof David Goldstein describe their work uncovering chance mutations that cause childhood epilepsy.
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 Genetics and Microbiology, Professor of Biology and Director of the Centre for Human Genome Variation at Duke University. Welcome to Up Close, David.
DAVID GOLDSTEIN Thank you, it's good to be here.
DYANI LEWIS Sam, we refer to epilepsy as a single condition, but it's actually more correct to say epilepsies, isn't it?
SAM BERKOVIC That's absolutely right. The epilepsies signify a group of diseases where the sufferers have epileptic seizures and we've learned that far from being a single condition it's very heterogeneous, both from what we see as clinicians and even more so now that we're digging into their molecular bases.
DYANI LEWIS When you make a diagnosis of epilepsy, is it just on the basis of these seizures then?
SAM BERKOVIC The diagnosis is based on what the patient suffers, which are the epileptic seizures, but together we traditionally put together investigations, such as the electro-encephalogram, the recording of brainwaves, and also and very importantly brain imaging, where we get a picture of the structure of the brain, which sometimes gives us the answer to what caused the epilepsy. But more often than not it does not and that's particularly where genetics comes in.
Excerpt from:
Sequencing seizures: Discovering new genetic mutations behind epilepsy