The search for new risk genes and therapies to treat MND is set to accelerate with the announcement of the $1.05 million MND Australia Ice Bucket Challenge Grant that will bring together clinicians and researchers from Australia's leading MND centres.
Funding and grant review
All funds for the grant came from over 30,000 Australians who donated to MND Australia's research arm, the MND Research Institute of Australia (MNDRIA) during last year's MND Ice Bucket Challenge. This has enabled the largest grant ever awarded by MNDRIA. It will provide $350,000 per year over three years.
Seven grant applications were reviewed and scored by four eminent international MND research experts:
- Dr Brian Dickie, Director of Research Development, MND Association UK
- Professor Emeritus Andrew Eisen, Neurology UBC, Vancouver
- Professor Orla Hardiman , Neurology, Trinity College, Dublin
- Professor Emeritus Michael Swash, Neurology, London UK
When scores were tallied, the Sporadic ALS Australian Systems Genomics Consortium ranked highest.
Project overview
This is the largest collaborative MND project to be undertaken in Australia. It will be led by Professor Naomi Wray of the University of Queensland's (UQ) Queensland Brain Institute and Associate Professor Ian Blair of Macquarie University.
The Sporadic ALS Australian Systems Genomics Consortium (SALSA-SGC) comprises sixteen researchers from nine MND centres across Australia who will work together to build an integrated infrastructure for the collection and analyses of biological samples and clinical data. This pooled expertise will lead to a better understanding of the causes of sporadic MND.
According to Professor Wray the biology of MND is complex and poorly understood, but there have been dramatic advances in MND research in the past five years.
"These advances have been driven, almost entirely, by gene discoveries from the small number of families with more than one affected individual," she said.
For the vast majority (90% of all cases) of those with MND the diagnosis is sporadic, meaning they have an isolated case with no family history of the disease.
Recent developments in technology have revealed that people with sporadic MND may have genetic changes that could be risk factors for MND. SALSA-SGC aims to collectively identify new risk genes through whole genome analysis.
This initiative will generate a research resource that will underpin future research and enable people living with MND to benefit from advances made through genomic medicine.
About the new Sporadic ALS Australian Systems Genomics Consortium (SALSA-SGC)
From the grant application: "The biological basis of MND (also known as ALS) is complex and poorly understood. Nevertheless, there have been dramatic advances in MND research in the past five years that have been driven, almost entirely, by gene discoveries from families with more than one affected individual (familial MND). These have opened new chapters in MND research. Recent advances in technology mean that sporadic cases (90% of all cases of MND) can also contribute to gene discovery, but DNA from those affected is needed. We estimate that less than half of those with MND in Australia are currently recruited into genetic studies.
Here, we propose to build an integrated infrastructure for collection of biological samples and clinical data. Our proposal brings together clinicians from the major MND clinics across Australia. This new initiative will generate a research resource that will underpin future research and position future MND patients to benefit from advances made through genomic medicine.
In this proposal we will build upon the growing MND/ALS genomics resource and contribute to the international genomics initiatives. The sixteen investigators of our proposal bring expertise in MND genetics and genomic analysis integrated with clinical interpretation. The interpretation of analyses of genetics data will be assisted by three international associate investigators. The outcome of our project will be identification of new risk genes for MND and a nationwide strategy for genomic research through the new Sporadic ALS Australian Systems Genomics Consortium.
Identification of new risk genes will build a more complete picture of the underlying mechanisms and pathways for disease. Each new molecule offers a unique opportunity to discover mechanisms leading to neurodegeneration. Any new MND molecule is potentially a new therapeutic target."
SALSA-SGC researchers
Chief Investigators
Prof. Naomi Wray - Queensland Brain Institute, The University of Queensland, Brisbane, QLD
A/Prof Ian Blair - Macquarie University, Sydney, NSW
Dr Beben Benyamin - Queensland Brain Institute, The University of Queensland, Brisbane, QLD
Dr Robert Henderson - Royal Brisbane & Women's Hospital, Brisbane, QLD
Prof Matthew Kiernan - RPA Hospital/Brain & Mind Institute/Prince of Wales Hospital, Sydney, NSW
Prof Nigel Laing - University of WA, Perth, WA
Dr Susan Mathers - Bethlehem Hospital, Melbourne Victoria
Prof Pamela McCombe - Royal Brisbane and Women's Hospital & University of Queensland Centre for Clinical Research, Brisbane, QLD
Prof Garth Nicholson - Concord Hospital, Sydney, NSW
A/Prof Roger Pamphlett - University of Sydney, NSW
Prof Dominic Rowe - Macquarie University Hospital, Sydney, NSW
Dr David Schultz - Flinders Medical Centre, Adelaide, SA
Prof Peter Visscher - Queensland Brain Institute, The University of Queensland, Brisbane, QLD, 10%
Professor Steve Vucic - Westmead Hospital, Sydney, NSW
Dr Kelly Williams - Macquarie University, Sydney, NSW
Dr Qiongyi Zhao - Queensland Brain Institute, The University of Queensland, Brisbane, QLD
Associate Investigators
Prof Ammar Al-Chalabi - Professor of Neurology and Complex Disease Genetics King's College, London, UK
Prof Jan Veldink - Professor of Neurology and Neurogenetics, University Medical Centre, Utrecht, Netherlands
Prof Leonard van den Berg - Professor of Neurology, Director of ALS Center, University Medical Centre, Utrecht, Netherlands
Ms Anjali Henders - Queensland Brain Institute, The University of Queensland, Brisbane, QLD