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In one of the largest human genetic studies ever undertaken, scientists have identified the major common genetic variants that contribute to the cause of the devastating neurologic disease, multiple sclerosis (MS).
The results of the study are published today in the prestigious scientific journal, Nature. They represent years of work by the International Multiple Sclerosis Genetics Consortium (IMSGC) involving more than 250 researchers in 15 countries. Australian scientists have played a significant role and more than 1000 Australians with MS contributed DNA samples.
The study confirmed the presence of up to 57 MS genes with a remarkable pattern that shows that the reason some people get MS and others don't is largely due to subtle, inherited differences in immune function. It points to a pivotal role for T cells - the ‘orchestra leaders' of the immune system and makes it clear that MS is primarily an immunologic disease.
The Australian and New Zealand contribution was led by Professor Graeme Stewart, a Clinical Immunologist in the Westmead Millennium Institute, University of Sydney. It involved a consortium of 18 researchers from 5 states and New Zealand (in a group called ANZgene). Professor Stewart is one of five governance members of the IMSGC (with colleagues from Cambridge, Harvard, Yale and UCSF) and a member of the 11 person Project Direction Committee for the Nature study.
"Discovering so many new leads is an enormous step towards understanding the cause of MS," Professor Stewart said. "Most importantly, for people with MS, these genes also strengthen the case for immunologic treatments currently in clinical trials and point to new therapeutic approaches."
The University of Western Australia's Professor Allan Kermode - Clinical Professor of Neurology, Australian Neuro-muscular Research Institute and Professor William Carroll - Clinical Professor of Neurology, Australian Neuro-muscular Research Institute added "Our collaboration in the ANZgene initiative is indicative of the commitment, hard work and dedication of MS researchers everywhere, and emphasizes the global efforts to understand this disease. Advances in scientific knowledge will lead to greater understanding and ways to further improve the lives of people with MS. Western Australia has always been part of the international scientific community and continues to fight well above its weight on behalf of patients with MS."
Previous Australian research has suggested a link between Vitamin D deficiency and an increased risk of multiple sclerosis and the ANZgene consortium identified a vitamin D gene on chromosome 12. The international study has now identified a second vitamin D gene and provides insight into a link between genetic and environmental risk factors.
Multiple Sclerosis Research Australia (MSRA), together with the Australian Government, has funded MS genetic research over the past ten years.
MSRA's Executive Director Jeremy Wright welcomed the breakthrough announcement.
"This is a terrific milestone which brings welcome new hope to people with MS and great credit to the researchers. The Westmead Millennium Institute and ANZgene groups played a significant role in this international effort and have put Australia in the front line of potential new findings in both the diagnosis and treatment of MS," Mr Wright said.
The genetic testing and statistical analyses for the Nature paper were funded by the Wellcome Trust in the UK and the study was led from Cambridge and Oxford Universities.
Interview and photo opportunities are available with:
- Prof Bill Carroll - Clinical Professor of Neurology, Australian Neuro-muscular Research Institute
- Prof Allan Kermode - Clinical Professor of Neurology, Australian Neuro-muscular Research Institute
- Person with MS
ANZgene researchers are also available for comment in Melbourne, Newcastle, New Zealand, Sydney, Gold Coast and Hobart.
About multiple sclerosis (MS)
Multiple sclerosis is one of the most common neurological conditions among young adults, affecting around 20,000 Australians and 2.5 million individuals worldwide. It is most commonly diagnosed between the ages of 20 and 40, and 75% of those diagnosed are women. The disease results from damage to nerve fibres and their protective insulation, the myelin sheath, in the brain and spinal cord. The affected pathways - responsible in health for everyday activities such as seeing, walking, feeling, thinking and controlling the bowel and bladder - are prevented from 'firing' properly and eventually are destroyed.
The findings announced today focus attention on the pivotal role of the immune system in causing the damage and help to explain the nature of the immune attack on the brain and spinal cord.
The path to discovery of the "MS genes"
The first MS gene, HLA was discovered in 1972. It took until 2007 to confirm the second MS gene, Interleukin 7 receptor (IL7R) following work by Prof Stewart's team at the Westmead Millennium Institute and at the Karolinska Institute, Stockholm.
Mike Agnew (Communications Manager, The Australian Neuromuscular (+61 4) 18 776 146
Petricia Augustus (Communications Manager, MS Research Australia) (+61 2) 9468 8390 / (+61 4) 14 550 824
Prue Guillaume, Public Relations Manager, MS Australia (+61 2) 9646 0679 / (+61 4) 50 659 811
Janine MacDonald (UWA Public Affairs) (+61 8) 6488 5563 / (+61 4) 32 637 716
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