Professor Ingrid Scheffer
Professor Ingrid Scheffer received the Award in 2013 for her work 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.
Professor Scheffer’s collaborative has 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.
Much of her work has focused on improving our understanding of some of the most devastating and difficult to treat types of epilepsy – some of which cause children to have frequent debilitating seizures, intellectual impairment, and poor quality of life.
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.
She says, “Research has allowed us to find a cause. That is huge but it is only the beginning of the journey.”