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Advances in DNA sequencing are having a major impact on the understanding and diagnosis of epilepsy.
Leading up to today’s Purple Day for Epilepsy Awareness, geneticist Professor Jozef Gecz said advances in DNA sequencing have been a huge leap forward in understanding epilepsy.
Gecz, who is from the University of Adelaide's School of Paediatrics and Reproductive Health, said these advances will lead to individualised epilepsy treatment, when combined with the use of stem cells in laboratory research.
However, this technology also helped reveal that epilepsy is a more complex condition than previously thought, he said.
"Scientists used to believe that epilepsy was just one condition, possibly with one main cause. But now we know it is a very complex series of neurological disorders – it is many epilepsies, instead of just one epilepsy, with multiple causes and various symptoms," said Gecz.
Epilepsy is common, with up to three per cent of the Australian population experiencing epilepsy at some stage in their lives. It may develop from genetic or environmental factors and trauma.
"It's really thanks to the pioneering work of Dr John Mulley (Women's and Children's Hospital and University of Adelaide), who discovered the first gene for idiopathic epilepsy almost 20 years ago. Since then, almost 40 idiopathic epilepsy genes have been discovered, many of them by researchers here in Adelaide," he said.
DNA mutations in today’s more than 300 known genes can lead to some form of epilepsy, in addition to other problems like intellectual disability, autism or psychiatric problems.
Most cases are being solved “very quickly, very accurately, and cost effectively” because of genetic sequencing technology.
"Molecular diagnosis is making a huge impact on treatment – it's really taken off in the last few years, and it has the potential to be even more effectively used in the future,” Gecz said.
“Clinicians can now be guided by genetic information when considering treatment of patients with specific epilepsies," he said.
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