GlaxoSmithKline has awarded Professor Ingrid Scheffer from the University of Melbourne, the Florey Institute, Austin Health and the Royal Children's Hospital, the 2013 Award for Research Excellence (ARE) for helping to transform the diagnosis of epilepsy.

The award includes an $80,000 grant and has been awarded annually since 1980 in recognition of outstanding medical research.

GSK Medical Director Dr Andrew Yeates says Professor Scheffer’s clinical research has resulted in the identification of new epilepsy syndromes and has led directly to the discovery of new causative genes.

“This allows a better understanding of the course of the condition, a targeted approach to therapy, and where appropriate, enables other family members to have genetic testing to understand any implications for themselves,” said Dr Yeates.

The ARE is one of Australia’s oldest and most prestigious awards for medical research and one of the few that often recognises clinical researchers, with more than 40 per cent of the 34 winners working directly with patients.

“Clinical researchers have great insights – they draw on their clinical experience to frame research questions, collaborate with scientists to seek answers about diseases and then translate research findings into tangible results for their patients,” said Dr Yeates.

“In the case of Professor Scheffer, her collaborative work led directly to the identification of the first gene for epilepsy in 1995 and since, more than half of the 30 or so known genes.

“In particular, much of her work has focussed on improving our understanding of some of the most  devastating and difficult to treat types of epilepsy -  the so called ‘epileptic encephalopathies ’- in which children have frequent debilitating seizures, often have intellectual impairment, have extremely poor quality of life and reduced life expectancy,” he said.

Making a difference to her patients and their families is the reason Professor Ingrid Scheffer is a clinical researcher.

“Being able to explain to a mother why her son has epilepsy and intellectual disability, after she has lived through 28 years of concern about what caused the illness is a key motivator for me,” said Professor Scheffer.

Professor Scheffer and the GSK awardProfessor Scheffer studied for 13 years to become a paediatric neurologist followed by more than three years to obtain her PhD to be trained as a clinical scientist.

“I had always thought of myself as a doctor, not a scientist as I don’t do research in a lab, I study with patients together with my large team of researchers at The Florey Institute, the University of Melbourne and other collaborators,” said Professor Scheffer.

Professor Scheffer and her colleagues have revolutionised the way the medical world diagnoses epilepsy. This seismic change has only occurred in the last 18 years since discovering the first epilepsy gene.

“Research has allowed us to find a cause. That is huge but it is only the beginning of the journey.

“Once you find the gene it is just the start. We need to figure out how the gene behaves and expresses itself and what is going wrong due to the mutation. We need to find treatments that work to correct the abnormalities due to the gene change. One specific genetic disease might respond to specific drugs and then we can use these on other patients with similar forms of epilepsy.

“Our work is making a real difference, if someone was tested with a similar disorder and we know a specific gene responds to a drug, a doctor can prescribe a drug that works.

“We have gradually taught neurologists and paediatricians to think genetically about epilepsy. Previously a family history was dismissed even when it was strikingly clear. It was partly the stigma, we were happy to accept Uncle Bob fell off a horse because people didn’t want to know about it being genetic as they felt guilty about passing it on.

“The next generation is much better about it and willing to accept things are genetic,” said Professor Scheffer.

For more information about the award, visit www.gsk.com.au/research-development.aspx