Australian scientists are moving closer to understanding how multiple sclerosis develops, after establishing a way to examine more than 100 genetic risk factors together in human immune cells.
The project is led by Dr Hamish King at WEHI and funded through a $2.8 million research round from MS Australia. It aims to address a long standing gap in multiple sclerosis research by looking at how small genetic variations interact, rather than studying them one by one.
Over the past two decades, international genetic studies have identified hundreds of subtle DNA changes associated with an increased risk of multiple sclerosis, often referred to as MS. Most of these variations do not directly alter genes themselves. Instead, they influence how genes are switched on or off inside immune cells. That has made it difficult for researchers to determine how these risk markers translate into disease.
Dr King’s team plans to introduce and test these genetic variations in human immune cells, measuring how they alter gene activity and immune behaviour both individually and in combination. By building a platform that can model these risk factors collectively, the researchers hope to map the networks of genes that drive immune dysfunction in MS.
“MS can arise from many small genetic differences acting together, and this platform will allow us to study those changes collectively and connect them to the specific genes and pathways they affect.”
Multiple sclerosis is an immune mediated condition in which the body attacks the brain and spinal cord, damaging myelin, the protective coating around nerve fibres. Symptoms vary but can include difficulties with mobility, vision, cognition and fatigue. According to MS Australia, more than 37,700 Australians were living with the condition in 2025, a rise of 77.4 per cent since 2010. The economic cost of the disease reached $3 billion in 2024.
“For more than 20 years, we’ve known that there are many genetic markers linked to risk of developing MS, but we haven’t been able to fully explain how they alter immune cell behaviour,” Dr King said.
Dr Tennille Luker, Head of Research at MS Australia, said bridging the gap between identifying genetic risk and understanding disease mechanisms is central to improving outcomes.
“Identifying risk was only the beginning. Understanding how those genetic changes actually drive disease is what allows us to change its trajectory,” she said.
She added that the latest funding round supports work across the spectrum of MS research, from slowing progression to managing symptoms and improving day to day quality of life.
Alongside Dr King’s project, a postdoctoral fellowship funded by the Browne Family has been awarded to Dr James Hilton at the University of Melbourne. His work will focus on developing new compounds aimed at protecting nerve cells in progressive MS, where treatment options remain limited.
MS Australia says it has invested more than $60 million in research over the past two decades. Chief executive Rohan Greenland said sustained national investment remains critical as case numbers rise.
“Research is hope, and it reminds people living with MS that progress is possible, and that better treatments and prevention are within reach,” he said.
The new grants will be formally launched at Parliament House in Canberra as part of MS Australia’s Advancing MS Research in Australia event, with federal MPs including Dr Monique Ryan and Renee Coffey expected to speak on the importance of continued support.
Other funded projects reflect the breadth of scientific approaches now being applied to the condition.
At The University of Queensland, Associate Professor Anna Hatton is developing sensory shoe insoles designed to improve balance in people living with MS. The insoles use what she describes as vibrotexture technology to enhance signals from the feet to the brain, with the aim of reducing falls and supporting independence.
“Copper is a trace nutrient that we get through food, and though it is present in very low levels in the body, it plays a critical role in energy utilisation and antioxidant defences,” Dr Lins said.
At the Menzies Institute for Medical Research, Professor Kaylene Young is examining how changes in brain blood vessels may contribute to MS progression. Using stem cell models, her team will explore how genetic differences influence blood flow, inflammation and nerve cell survival, with a view to identifying drug targets that protect myelin and slow disability.
“We predict that even after MS develops, targeting and improving blood vessel health could be critical for supporting brain remyelination and preventing nerve cell death,” Professor Young said.
Researchers are also continuing to investigate environmental triggers. At The Florey Institute of Neuroscience and Mental Health, Mr Alex Eisner is studying how Epstein Barr virus and other common herpesviruses may shape immune responses and gene regulation in ways that influence MS risk and progression. His project will examine how viral exposure interacts with a person’s genetic and epigenetic profile.
Meanwhile, Dr Brittney Lins at Curtin University is exploring whether disrupted copper levels in the brain could link several known MS risk factors, including viral infection, vitamin D deficiency and gut health. Her research will assess whether copper imbalance contributes to myelin damage and whether restoring balance could open new therapeutic pathways.
“I think copper could be the missing link that ties together multiple MS risk factors.”
While many of these projects are still in early stages, researchers and advocates argue that understanding the biological drivers of MS remains essential if prevention strategies and more precise treatments are to be realised. For the thousands of Australians living with the condition, progress in the laboratory carries tangible hopes for stability, independence and improved quality of life.
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