'Gene for speed' researcher awarded Ramaciotti Medal

Professor Kathryn North AM, the researcher responsible for discovering the 'gene for speed', has been awarded the prestigious Ramaciotti Medal for Excellence in Biomedical Research and a $50,000 grant.

Professor North is the Douglas Burrows Professor of Paediatrics and Child Health at the University of Sydney and Head of the Institute for Neuroscience and Muscle Research at the Children's Hospital, Westmead. She will be presented with the medal at the annual Ramaciotti Awards tonight in Brisbane, where Perpetual will distribute over $1.6 million in funding to Australian biomedical researchers on behalf of the Ramaciotti Foundations. In February 2013, Professor North will become the Director of the Murdoch Children's Research Institute.

The Ramaciotti Medal recognises Professor North's outstanding contribution to biomedical research in three key areas: neuromuscular disorders, neurofibromatosis, and the study of genes that influence athletic performance.

Professor North received worldwide recognition for leading the team that discovered a skeletal muscle gene (ACTN3) linked to athletic muscle performance and function, dubbed 'the gene for speed'. Professor North's research showed that although one in five Australians are deficient in a -actinin-3, no Olympic sprint athletes have ever been found deficient in the gene.

Professor North hopes to use the discovery to unlock new neuromuscular genetic information, which will help children and adults prevent, isolate or better manage muscular diseases in the future.

Professor North said, "Discovering the link between genetic variation and athletic performance opened a new path of study for both sports science and public health. Together with my research team, I'm now exploring how ACTN3 affects how individuals gain weight and respond to exercise. This is likely to emerge as an important risk factor for diabetes and obesity," she said.

A large part of Professor North's work is focused on understanding neuromuscular disorders such as muscular dystrophy. Leading a multi-disciplinary research team of more than 50, Professor North cares for over 900 children with a range of neuromuscular disorders - muscular dystrophy, myopathy and neuropathies - and over 1,200 children with Neurofibromatosis type 1.

"Our research team has a direct focus on health outcomes for children and adults with incurable disorders. We undertake much of this research in a clinical setting, where results can be promptly translated into improved health care. This means we have a significant impact on improving the lives of people suffering from neuromuscular disorders," Professor North said.

She explains that neuromuscular disorders constitute one of the major causes of ongoing disability in childhood, and often cause early death from respiratory failure.

"Sadly, there is no cure for muscular dystrophies, but our work in the Institute for Neuroscience and Muscle Research has increased understanding of these diseases and improved the treatments that are available," Professor North said.

The Ramaciotti Medal carries an award of $50,000 and recognises an outstanding contribution to clinical or biomedical research, or the way in which healthcare is delivered. The nominee must still be actively engaged in research. High profile past winners include Professor Sam Berkovic, Professor Chris Parish, Professor T J Martin, Professor Robert Baxter, Professor Ian Frazer, Professor Christopher Goodnow and Professor Michael Parker.

Andrew Thomas, General Manager, Philanthropy at Perpetual, which manages the Ramaciotti Foundations said, "The scope of Professor North's research is truly impressive. It has improved the lives of those with neuromuscular diseases, led to breakthroughs in gene discovery, increased our understanding of athletic performance and created new ways to think about obesity and diabetes.

"What really stands out in Professor North's body of work is her dedication to translating laboratory research into clinical practices that positively impact the lives of her patients," he said.

Perpetual said the Ramaciotti Medal is an important way to recognise the contribution of Australia's world-leading biomedical researchers.

"Australia's biomedical researchers do extraordinary work, every day, to improve the health and lives of everyone in the community. The Ramaciotti Awards are an important opportunity to recognise some of the best work in the sector, and to provide funding to make it possible," Mr Thomas said.

The Ramaciotti Foundations were established in 1970 with $6.7 million in funds. Since then, the charitable trusts have donated more than $52.5 million to biomedical research.

About the Ramaciotti Foundations

Managed by Perpetual, the Ramaciotti Foundations started off with $6.7 million in funds in 1970 with the first major grant going to the Walter and Eliza Hall Institute in 1971. This assisted with the establishment of the new Clive and Vera Ramaciotti Research Laboratories building.

Since then, the Foundations have donated more than $52.5 million to biomedical research and are one of the largest contributors to the field. Their combined capital now stands at over $45 million.

The Ramaciotti Foundations continue to support biomedical research and each year make significant distributions via the Ramaciotti Awards, providing funding support to areas such as molecular biology, genetics and immunology, and assisting young investigators taking up new challenges in biomedical research.

At the 2012 Ramaciotti Awards, the Ramaciotti Foundations will grant over $1.6 million to biomedical research in Australia.

About the Ramaciotti Medal for Excellence in Biomedical Research

The Ramaciotti Medal carries an award of $50,000 and recognises outstanding contribution to clinical or biomedical research, or the way in which healthcare is delivered. The nominee must still be actively engaged in
research.

High profile past winners include Professor Sam Berkovic, Professor Chris Parish, Professor Thomas Martin, Professor Robert Baxter and Professor Ian Frazer.

About the Ramaciotti Establishment and Equipment Grants

Establishment Grants - Establishment Grants are intended to provide enabling research support for a young investigator who is taking, or has taken up, a substantive research position. The maximum amount for this gift is $75,000.

Equipment Grants - Equipment Grants are intended to provide funding of up to $75,000 towards the purchase of a single item of equipment costing $75,000 or more.

About the Ramaciotti Biomedical Research Award

The $1 million award is open to groups or individuals undertaking a single initiative in biomedical research within Australian universities, public hospitals, medical research institutes or other similar organisations. Traditionally, it funds a need that would not attract funding elsewhere. This award is presented every two years and will next be awarded in 2013.

About Perpetual Philanthropic Services

Perpetual is one of the largest managers of private charitable foundations in Australia, with $1.1 billion in funds under management (as at 31 Dec 2011). Perpetual manages charitable trusts and endowments – including Private Ancillary Funds (PAFs) and the Perpetual Foundation – for over 540 clients, supporting medical, social, environmental, religious, cultural and educational causes.

Perpetual Philanthropic Services is part of Perpetual Private, which advises clients on $8.1 billion of funds (as at 31 Dec 2011). The Perpetual Private team of experts offer tailored advice and services and can help clients fulfill their charitable intentions.