A newborn baby held by a mother

A research project aiming to improve the health outcomes of children with epilepsy by speeding up diagnostic testing has received a funding boost.

The Murdoch Children Research Institute (MCRI) has been awarded a grant from UCB Australia that will support a study into evaluating the economic value of rapid genome sequencing for infantile epilepsy. The use of rapid genome sequencing holds considerable promise for children affected by time-critical conditions such as infant epilepsies, with the hope of improving seizure control and quality of life.

The $198,000 grant, by UCB Australia, a global biopharmaceutical company headquartered in Brussels, was announced today at an event, Together for Severe Childhood Epilepsy, hosted in partnership with Epilepsy Action Australia.

Her Royal Highness Princess Astrid of Belgium, Representative of His Majesty the King, attended the event alongside families with children living with severe epilepsy and representatives of the Belgian economic mission to Australia.

The grant was made in recognition that further evidence was needed to support the implementation of rapid genome sequencing into healthcare, including determining its cost-effectiveness, which is required to inform advocacy and policy decisions. Infantile epilepsy is a neurological disorder, which causes recurrent and unprovoked seizures, and often leads to serious, lifelong developmental and cognitive delays. Most forms of infantile epilepsy have a genetic cause.    

The announcement builds on the existing work of an international collaboration, which recently found rapid genome sequencing can detect rare genetic diseases within weeks, is highly effective at diagnosing babies with epilepsy and allowed treatment to be tailored in many cases.

Epilepsy patient Levi with the Purple Wiggle Lachlan Gillespie

Purple Wiggle Lachlan Gillespie with Levi, who has a rare genetic disorder that triggers frequent seizures, and his mum Karsha at the grant announcement event.

Unlike more targeted genetic testing that is often used to confirm a suspected diagnosis, rapid genome sequencing looks for any changes in a person’s DNA that may explain a medical condition. The technology involves analysing the entire genome, the complete set of an organism's genetic material. Currently, there are more than 800 different genetic causes of infantile epilepsy, and many have similar symptoms during infancy.

MCRI’s Dr Katherine Howell, who will lead the research, said an early diagnosis allowed doctors to make informed decisions affecting treatment, evaluation, counselling and potential precision therapies earlier and potentially avoid progressive neurological deterioration due to seizures or underlying disease.

“Epilepsy is not just one condition, there are many different forms,” she said. Research is critical to better manage and understand childhood epilepsies.

“I’m privileged to be awarded this grant on behalf of the MCRI to continue the important research investigating genome sequencing to provide information that will ultimately lead to better outcomes for children living with epilepsy in Australia.”

UCB Australia Head of Neurology and Country Lead Selina Clifford said: “At UCB, our purpose is focused on creating value and helping to transform patients’ lives through support of research and innovation. We are proud to continue our long-standing commitment to epilepsy in Australia, to improve the management of the condition and to support new research that can make a difference for children living with severe epilepsy in Australia.”

Epilepsy Action Australia CEO Carol Ireland said: “I’ve met many families who have children with challenging epilepsy, including those with drug resistant epilepsy and some of the more devastating syndromes. Continuing research for early diagnosis and effective treatment to target seizure control is essential to give these children the best possible start and optimal psychosocial and health outcomes for life. We thank researchers like Dr Katherine Howell as well as UCB who are continuing to support and foster better understanding into these debilitating chronic neurological conditions.”