MS breakthrough enormous step forward

Scientists claim they have discovered the major common genetic variants that contribute to the cause of the neurological disease, multiple sclerosis (MS); in one of the largest human genetic studies alleged to have ever been conducted.

The results of the study were published this week in the journal, Nature, and represent years of work by the International Multiple Sclerosis Genetics Consortium (IMSGC) involving more than 250 researchers in 15 countries.

Australian scientists played a significant role and more than 1,000 Australians with MS contributed DNA samples.

The study confirmed the presence of up to 57 MS genes; described by scientists as a “remarkable pattern” that shows the reason some people develop MS and others do not largely due to “subtle, inherited” differences in immune function.

The research 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 at the Westmead Millennium Institute, University of Sydney.

It involved a consortium of 18 researchers from five 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.

“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,” he said.

The University of WA’s Professor Allan Kermode – Clinical Professor of Neurology at Australian Neuro-muscular Research Institute and Professor William Carroll – Clinical Professor of Neurology at Australian Neuro-muscular Research Institute – added the collaboration indicated the commitment, hard-work and dedication of MS researchers world-wide, and “emphasises 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,” they said.

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,” he said.