News

Excellence award for paediatric neurogeneticist


27 May 2011

The award highlights the importance of research into rare, often neglected, genetic disorders, says Professor Kathryn North.
The award highlights the importance of research into rare, often neglected, genetic disorders, says Professor Kathryn North.

World leading genetic research focussed on muscle function and performance has won Kathryn North, Professor of Paediatrics and Child Health, at the University of Sydney, the 2011 GlaxoSmithKline Australia Award for Research Excellence.

The excellence award recognised Professor North's body of work as a translational medical researcher. North's work includes the world-first discovery of a common genetic mutation that influences muscle function and performance, ACTN3.

Now known as the gene for speed, Professor North's discovery of ACTN3 has been replicated globally by scientists researching the abilities of high performance athletics.

While seemingly poles apart, her research into the way muscles work in elite athletes has provided insight into genetic risk factors for common health problems in the general population such as obesity and diabetes. Professor North has shown that the absence of ACTN3 influences skeletal muscle performance, muscle and fat mass, adaptive response to diet and exercise and susceptibility to muscle damage.

While the discovery has brought her international recognition from her peers Professor North says her passion lies in research into treatments and cures for muscular disorders.

She is acknowledged as a world-leader in inherited neurological disorders in children, an area in which she says great things are within our grasp.

"Some of these genetic disorders in children, such as muscular dystrophy and neurofibromatosis, were previously thought to be incurable. I believe this is an area in which, in my lifetime, we will see major developments in treatments if not cures," she said.

The recipient of the GlaxoSmithKline Australia Award for Research Excellence is selected by an independent panel of senior members of the Australian scientific and clinical community.

When presenting the award GSK Medical Director Dr Camilla Chong said:

"Neuromuscular disorders constitute one of the major causes of ongoing disability in childhood. Professor North's research has not only significantly advanced our understanding of these disorders but has had an immeasurable impact on the lives of patients through better diagnosis and disease management," she said.

We hope the award, and Professor North's achievements, will inspire many other scientists and clinicians in Australia to continue their research to improve human health," Dr Chong said.

On receiving the Award, Professor North said: " This is such an honour, not just for me but for my entire research team. The award highlights the importance of research into rare, often neglected, genetic disorders - and how what we learn from them can often have relevance to common health problems in the general population. It is a wonderful recognition of what we do," she said.


Media enquiries: Victoria Hollick, 0401 711 361, 9351 2579, victoria.hollick@sydney.edu.au

Kath Kenny, 0478 303 173, 9351 1584, kath.kenny@sydney.edu.au