Providing clarity for sufferers of childhood epilepsy.

Imagine seeking medical treatment for your child for a serious condition, and your specialist tells you this: there is medication that can treat your child’s illness, but it could make them better, or it could make their condition much, much worse. And there’s no way of knowing which until we administer the treatment and find out.

Those chances sound about as reliable as a coin flip, but for many children with severe epilepsy, that was the reality they were faced with until quite recently. In some patients, the available medication would reduce the frequency and severity of their seizures, but in others, it would significantly worsen their condition – and there was no way to know until the child had been treated.

For Western’s Dr Nathan Absalom, those odds were unacceptable, so he set about trying to find out why different children reacted to treatment in such different ways.

What Dr Absalom’s genomic sequencing research revealed was that these patients had key differences in the GABRB3 gene – a gene crucial in regulating the central nervous system – meaning that they were actually suffering from distinct conditions. “Basically, these kids have a different syndrome,” said Dr Absalom. “Previously, these patients would have all been categorised as having developmental encephalopathy which is a whole group of different genes and characteristics.” This meant that physicians had to rely on approximations in determining treatments, which produced mixed results in patients.

Dr Absalom’s work has, at last, provided clarity for treating physicians and patients alike, enabling them to predict the reaction of patients to treatments. “There is a real lack of drugs on the market because we didn’t understand why these children developed epilepsy,” explained Dr Absalom. “But we’re finding with the genetic sequencing of these kids is that these variations aren’t just occurring in this one gene, it’s happening in a lot of genes.” This clarity will hopefully be instrumental for pharmaceutical companies in the development of new drugs to treat these genetic variations.

Dr Absalom’s was recently awarded the Scientific Merit Award by the Epilepsy Society of Australia (ESA), but he feels his work is not finalised yet. His research into the GABRB3 gene will continue at Western, in collaboration with eight academics and two students. Dr Absalom will also be teaching genetics, and genomics and human health at Western from 2022.