Sydney researchers to lead multiple sclerosis study

The Garvan Institute of Medical Research and St Vincent's Hospital Sydney have launched an Australia-wide study to improve our understanding of multiple sclerosis, a debilitating autoimmune condition that affects 2.8 million people worldwide.

More than 40 clinicians and scientists have united in the Open Coast-to-Coast Australian Multiple Sclerosis (OCCAMS) consortium to detect genetic 'biomarkers' in immune cells that could lead to early detection of multiple sclerosis risk, earlier intervention and better patient outcomes. This team of national and international experts will analyse samples collected in New South Wales, Tasmania, Victoria, and Western Australia.

Multiple sclerosis is a chronic, incurable disease of the brain and spinal cord, where the immune system attacks and degenerates the protective myelin sheath around nerves, leading to disruption in the signals the brain sends to the rest of the body. It affects more than 33,000 people in Australia alone and can result in a range of disabling symptoms, including loss of mobility, fatigue, incontinence, and changes to vision.

The OCCAMS team will establish a national biobank of blood samples from people with multiple sclerosis in Australia. Using sophisticated single-cell sequencing technology and machine learning, the researchers will study the subtle differences in the patients' immune responses to the Epstein-Barr virus, which is present in 90% of cases and which raises the risk of developing multiple sclerosis 32-fold.

Professor Tri Phan, scientific lead of the consortium, Co-Director of the Precision Immunology Program at Garvan and immunologist at St Vincent's Hospital Sydney, says: "The Epstein-Barr virus is a risk factor for multiple sclerosis; however, only a very small percentage of those infected go on to develop multiple sclerosis. Genetic factors that shape our immune response to the virus may contribute to why some people develop MS and not others."

Dr Jennifer Massey, clinical lead of the consortium and neurologist at St Vincent's Hospital Sydney, says: "This research may form the basis for future primary prevention studies. It thereby brings much-needed hope to those affected by multiple sclerosis and their families."

MS Australia Head of Research, Dr Julia Morahan, says: "MS Australia is delighted to partner on this project, that will provide new insights into the role of the Epstein-Barr virus in very early MS. The team will use cutting-edge molecular techniques to illuminate relationships between the immune system and the virus, which we hope will ultimately lead to prevention strategies for those at risk of developing MS."

The OCCAMS consortium partners are the Garvan Institute of Medical Research, St Vincent's Hospital Sydney, St Vincent's Curran Foundation, Westmead Hospital, Sydney Eye Hospital, UNSW Sydney, Monash Health in VIC, the Perron Institute in WA, the University of Sydney, Monash University, University of Tasmania, Australian National University in the ACT, Stanford University in the USA, University of Birmingham in the UK, University of Munster in Germany, MS Australia, and 10x Genomics.

This research is supported by the Medical Research Future Fund. Professor Tri Phan is a Conjoint Professor at St Vincent's Clinical School, Faculty of Medicine and Health, UNSW Sydney.

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