Sam Berkovic’s 1995 discovery set the ball rolling towards a potential cure for epilepsy. A similar breakthrough today, he fears, would not have the same impact.

The University of Melbourne neurologist collaborated with colleagues in Adelaide and Germany to identify the first known genetic cause of epilepsy. Hundreds more have been uncovered since, during the “explosion” in genetic research that followed the sequencing of the human genome in 2003.

Berkovic said it was difficult to imagine the Human Genome Project gaining traction in the current funding environment, where policymakers expect predetermined results from their investments. Much of its $3 billion (£2.25 billion) costs were met, somewhat inexplicably, by the US Department of Energy.

“I’m not really sure what they were trying to do but…all of us in medicine are incredibly indebted,” Berkovic said. “That’s one of the things about discovery science. You never quite know where it’s going to go. That’s sometimes hard to sell to politicians who say, ‘You’re asking for tens of millions of dollars. What’s the outcome in three years?’”

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Berkovic, long-serving director of the Epilepsy Research Centre at Melbourne’s Austin Hospital, has been named incoming president of the ߣߣ��Ƶn Academy of Science. It is the latest in a collection of honours that include being elected a fellow of the Royal Society in London, receiving ߣߣ��Ƶ’s top civilian award and sharing the 2014 Prime Minister’s Prize for Science with fellow epilepsy gene discoverer Ingrid Scheffer.

Berkovic plans to use his four-year presidency, which starts in May, to address an issue of common concern to ߣߣ��Ƶn scientists: the declining levels of support in a country at the bottom of the R&D investment “league table”, where “policymakers seem to have a very negative view about discovery science”.

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He also accuses scientists of being “a bit too meek” in confronting the types of misinformation that have led to people “getting crazy medical advice off the internet”. His specialty area is a case in point, with vaccines blamed for epilepsy and neurodevelopmental disorders in children.

Research by Berkovic and others zeroed in on a previously unknown mutation in a gene involved in the cellular transmission of electrical signals. “[It] was associated with a particularly nasty type of childhood epilepsy disorder,” Berkovic said. Vaccines might “trigger” initial seizures – as might other stressors like viral infections – but sufferers “were going to get the disorder anyway”.

Perhaps more importantly than debunking internet myths, epilepsy research has delivered relief to parents battling guilt over the unknown causes of their children’s illnesses. Some blamed themselves for causing the condition by getting their babies vaccinated or taking too long to secure medical attention for some childhood bump.

Scientific explanations offer a degree of “closure”, Berkovic said. “Everybody thinks they’re the only person in the world [dealing] with this condition. That’s very isolating, and when there’s no explanation, it’s even worse. Providing that closure is a very important thing in human psychology, particularly when you’re a parent. Families form support groups [and] talk about the effect of this particular gene on their child.”

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Genetic research has also improved treatment, he said. “We now know, for many of the genetic disorders, which of the conventional drugs work better and which ones don’t. We can give some guidance to the families about…what might be best for their child.”

Gene therapy is yet to produce the type of breakthrough therapy for epilepsy that it has delivered for other serious diseases of the central nervous system, such as . Treatments within the brain itself involve extra complexity, Berkovic said, but “we’re hopeful they’re not that far away”.

He credits his upbringing, as the child of European Jews, for a career-driving tenacity. His Slovakian father Alex endured Auschwitz-Birkenau. His German mother Eva spent much of the war in hiding in Belgium. The pair met in post-war ߣߣ��Ƶ. “With one exception [they were] the only survivors of their families,” Berkovic said.

“It…influenced me through my life to work hard and make something of it, given the sacrifices that my parents had made. My brother and I were the people that took things on. We were the remnants.”

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As his presidency beckons, Berkovic’s concern now is for the next generation of researchers, in a country where success rates from competitive funding schemes are plunging .

“That’s pretty depressing – a one in 12 chance of getting a grant,” he said. “We’re losing a lot of our bright young scientists. They think the future is just a bit too bleak.”

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john.ross@timeshighereducation.com