Hunter researchers have contributed to the discovery of two genes linked to the development of Multiple Sclerosis (MS).

This important research, published recently in the international scientific journal, Nature Genetics, confirms that MS is an autoimmune disease and provides clues about the causes of MS.

The discovery was made by the ANZgene consortium - Australian and New Zealand researchers from 11 centres including one in the Hunter region which is also supported by the Hunter Medical Research Institute (HMRI).

MS researchers from Hunter New England Health collected blood samples for genetic DNA information from Hunter people with and without MS, which contributed to a total of more than 5,000 participants involved in the study. Genetics and bioinformatics specialists Professor Rodney Scott and Associate Professor Pablo Moscato from the University of Newcastle helped interpret and identify the patterns in the vast information collected.

“We know if you have a sibling with multiple sclerosis your risk of developing the disease rises from roughly 1 in 1000 to 35 in 1000. For a long time, only one gene was found to be associated with the disease. Recently a few more have been identified,“ said Dr Jeannette Lechner Scott, a Staff Specialist in Neurology at John Hunter Hospital and a member of the HMRI Information Based Medicine Research Program.

“Genome-wide screening in Australian and New Zealand of patients with MS has now found two new genes that confirm that multiple sclerosis is linked to an altered immune response.

“Not everyone with these genetic variants will develop MS. In addition to a genetic predisposition to MS, it is likely that you need to encounter two or more environmental factors to trigger the onset of the disease.

“We can now examine these genetic clues alongside environmental clues and see if they are linked. In time, this could lead to better therapies or even prevention of MS.”

MS affects 2.5 million people worldwide including almost 20,000 Australians. The causes of MS are unknown but are thought to be a combination of genetic predisposition and environmental factors.

This research was funded by a cooperative scheme (Linkage Grant) between MS Research Australia and the Australian Research Council.

HMRI is a partnership between the University of Newcastle, Hunter New England Health and the community.

Links

Learn more about innovative bioinformatics research being conducted in the Hunter at the University of Newcastle's Priority Research Centre for Bioinformatics, Biomarker Discovery and Information-based Medicine

http://livesite.newcastle.edu.au/cibm