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New clues in understanding faster disease progression in multiple sclerosis

Florey scientists help identify the first genetic marker for multiple sclerosis (MS) severity, opening the door to preventing long-term disability.

Melbourne scientists have joined MS researchers from around the world by contributing to a study that has identified genetic factors influencing outcomes in people with MS.

The study of more than 22,000 people with MS has discovered the first genetic variant associated with faster disease progression, which can rob patients of their mobility and independence over time.

MS is the result of the immune system mistakenly attacking the brain and the spinal cord, resulting in symptom flare-ups known as relapses, as well as longer-term degeneration known as progression. Despite the development of effective treatments for relapses, none can reliably prevent the accumulation of disability.

The findings, published today in Nature, point to a genetic variant that increases disease severity, providing the first real progress in understanding and eventually fighting this aspect of MS.

The Florey’s Neurogenetics Group Head, Associate Professor Justin Rubio, said the team in Melbourne provided the study with clinical data and DNA samples from people in Victoria living with MS.

“We don’t understand why the rate of disability accumulation in people with MS is so variable, leaving some using a wheelchair after 10 years and others running marathons,” said Associate Professor Rubio, Chair of the ANZgene MS Genetics Consortium.

“By identifying these genetic variants, we’re demonstrating that genes expressed in the nervous system are important modifiers of MS outcome, which opens the door for new treatments for MS progression,” he said.

The Nature study, which analysed samples from North America, Europe and Australia, involved more than 70 institutions and was led by researchers from the University of California San Francisco (UCSF) and the University of Cambridge.

The Florey leads important MS research in Australia, with projects underway to understand the role of nervous system repair in MS progression; to find novel therapies; and to discover early detection methods and treatment options.

“MS is the most common neurodegenerative disease in young adults. This discovery provides an important new piece in the puzzle that could lead to the development of new treatment options for people with MS,” Associate Professor Rubio said.

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