Australian study probes how genetic variants combine to cause MS
MS Australia grant funds research on gene changes
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A researcher's desk shows efforts to secure funding.
- Researchers are studying how over 100 genetic variants contribute to MS.
- These genetic changes affect immune cell activity and inflammation.
- Understanding these combinations could lead to more precise treatments.
A researcher at the Walter and Eliza Hall Institute in Australia has received funding from MS Australia to uncover how genetic risk factors contribute to multiple sclerosis (MS).
Hamish King, PhD, will use the AU$400,000 (about $281,000) grant to investigate how more than 100 genetic changes linked to MS influence gene activity and the behavior of immune cells that drive inflammation in the disease.
King’s team will also develop a platform to explore how combinations of genetic changes affect immune cells. Studying these risk variants together has been a major challenge in MS genetics, as tools to examine their combined effects have not yet been developed.
The project, titled “Investigating the genetic causes of multiple sclerosis,” was funded through MS Australia’s latest $2.8M grant round, which supported 15 other research projects.
“Understanding how networks of risk genes operate together could help enable more precise treatments and, ultimately, better long-term outcomes for people living with MS,” King said in a university news story.
Explaining genetics
Scientists don’t fully understand exactly what causes MS, but research has shown that hundreds of genetic changes are linked to an increased risk of the condition.
Many of these changes don’t alter genes directly. Instead, they appear to affect when and where genes are turned on or off, particularly in immune cells.
“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,” King said.
To address that question, King’s team will introduce more than 100 MS-associated genetic variants into human immune cells. The researchers will then examine how these variants influence gene activity and immune cell function.
They also plan to use innovative methods to explore how different combinations of genetic variants interact, which may help better understand the complex genetics of MS.
“MS is believed to arise from many small genetic differences acting together, potentially in combination with other non-genetic factors,” King said. “This platform will allow us to study those genetic [differences] … collectively and connect them to the specific genes and pathways they affect.”
Tennille Luker, PhD, head of research at MS Australia, said researchers are focusing on the real-world impact of genetic discoveries. “Identifying risk was only the beginning,” Luker said. “Understanding how those genetic changes actually drive disease is what allows us to change its trajectory.”
The latest MS Australia grant round funded 16 research projects. Among them are studies examining how the Epstein-Barr virus may influence MS risk by altering gene regulation, how disruptions in copper regulation might contribute to the disease, and whether lifestyle changes could affect the oral microbiome (the community of bacteria living in the mouth) in ways that benefit people with MS.
“We are investing in research that slows progression, manages symptoms and improves quality of life,” Luker said. “These projects strengthen our response to MS today while laying the scientific foundation for prevention and cures.”
