Q: What is this study trying to discover about MS?
A: The study aims to discover how inherited genetic risk factors and the immune response to the Epstein-Barr virus may interact to trigger multiple sclerosis (MS) before clinical symptoms appear.
Q: What method are they using to explore this connection?
A: Researchers will use a method known as “recall by genotype” (RbG). This approach groups participants according to specific genetic variants and then brings selected individuals back for targeted clinical and laboratory testing to identify early biological signs of MS.
Q: Why is this research important for the future of MS detection?
A: By revealing early biomarkers and biological changes that occur before diagnosis, the research could enable predictive screening tools, earlier intervention strategies, and a clearer understanding of how MS develops in some people but not others.
Summary: Researchers are launching a pioneering Australian study to examine how genetic susceptibility and the Epstein-Barr virus might combine to trigger multiple sclerosis. Using recall by genotype, the team will compare biological traits in people with high versus low genetic risk long before symptoms appear, aiming to identify early warning signs and clarify why only a minority of those exposed to Epstein-Barr go on to develop MS.
This research could transform early detection and inform future preventative strategies for a chronic neurological disease that affects communication between the brain, spinal cord and body.
Key Facts:
- Genetic targeting: The study will calculate MS genetic risk scores and use these profiles to identify individuals at higher or lower genetic risk.
- Virus link: The Epstein-Barr virus, commonly associated with glandular fever, is a primary focus due to growing evidence it may trigger MS in susceptible people.
- Australian first: This is the first study in Australia to use recall by genotype specifically to investigate multiple sclerosis.
Source: University of South Australia
In a major step toward early detection, researchers at the University of South Australia are investigating the biological mechanisms that could predict an individual’s genetic risk of developing multiple sclerosis long before any symptoms emerge.
Funded by an MS Australia Incubator Grant, this Australian-first study uses the recall by genotype design to explore genetic contributors to MS and how those contributors interact with the immune response to Epstein-Barr virus.
Specifically, the team will investigate links between MS and the Epstein-Barr virus — a common human virus best known for causing glandular fever but increasingly implicated as a potential trigger for MS. Because Epstein-Barr infects up to 90% of the population, understanding why only some infected people develop MS is a central question for prevention and early diagnosis.
MS is a chronic autoimmune condition that disrupts nerve signaling between the brain, spinal cord and the rest of the body. More than 33,000 Australians live with MS, and while its precise cause remains unknown, a combination of genetic predisposition and environmental exposures is thought to drive disease risk.
Lead investigator Dr David Stacey of UniSA explains that the team aims to untangle how Epstein-Barr infection and individual immune responses, shaped by genetics, might lead to MS in some people but not others.
“For many years we’ve known the Epstein-Barr virus is a likely precursor for MS,” Dr Stacey says. “But because so many people have been exposed to the virus, we need new approaches to identify the biological differences that make some individuals susceptible to MS.”
The study will compute MS genetic risk scores for more than 1,000 South Australian participants without a current MS diagnosis. From that group, researchers will select subsets with either high or low genetic risk for detailed clinical and laboratory assessments.
“By grouping participants by genetic profile, we expect to detect biological differences in people with elevated genetic risk even if they do not yet show symptoms,” says Dr Stacey. “Those differences could reveal how Epstein-Barr and MS are connected, and point to early biomarkers that signal disease initiation.”
Recall by genotype studies leverage naturally occurring genetic variants that are strongly associated with disease risk to form the basis for participant selection. Individuals identified through their DNA are then invited back for focused testing, enabling researchers to study causally informative biological changes with greater precision and efficiency.
In addition to advancing MS science, this study will establish practical resources and procedures to enable RbG studies in Australia. Until now, these designs have been difficult to implement locally, so the project will also address operational standards for participant recall and examine ethical practices around sharing genetic risk information with research participants.
“If we identify individuals who carry a higher genetic risk for MS, we must carefully consider how and whether to communicate that risk — particularly if the information has limited clinical actionability today,” Dr Stacey notes. The research team will study the ethical, legal and social implications to guide future policies on personal genetic risk disclosure.
The research team includes collaborators from the Perron Institute and the University of Adelaide. They hope this study will lay the groundwork for larger investigations, support development of early diagnostic tools, and inform future preventive strategies that could reduce the burden of MS.
About this genetics and multiple sclerosis research news
Author: Annabel Mansfield
Source: University of South Australia
Contact: Annabel Mansfield – University of South Australia
Image: The image is credited to Neuroscience News