Research & Development

GSK award shines light on seismic change to epilepsy diagnosis


GlaxoSmithKline has awarded Professor Ingrid Scheffer the 2013 Award for Research Excellence (ARE) for helping to transform the diagnosis of epilepsy.

GSK Medical Director Dr Andrew Yeates says Professor Scheffer’s clinical research has resulted in the identification of several 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 Andrew 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.

Dr Yeates says GSK is always pleased to showcase the valuable work of clinical researchers and help address the decline in this important field.

“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.

“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,” said Dr Yeates.

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 studied for 13 years to become a paediatric neurologist followed by three years of her PhD to be trained as a clinical scientist.

“I had always thought of myself as a doctor, not a scientist and even now I don’t do research in a lab, I do it with patients and my large team of researchers at The Florey Institute and the University of Melbourne.” 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, go to www.gsk.com.au/research-development.aspx
and Professor Scheffer, www.ingridscheffer.com