Multiple sclerosis genetics study

28 February 2024

More than 33,000 Australians are living with MS, and this number is increasing at a significant and accelerating rate. Despite many advances in treatment options, existing treatments can’t fully stop disease progression and MS continues to impose a significant economic, social, psychological and physical burden on people with MS, their families, and the community. And a cure for MS continues to evade scientists.

But there’s hope on the horizon in the form of new MS genetics study ‘GEMS’, backed by $2 million in funding from the Australian government’s Medical Research Future Fund, that plans to revolutionise MS diagnosis and treatment. And ultimately it has MS prevention in its sights.

The study, led by the Menzies Institute for Medical Research, involves a team of experts from Menzies, the Genome Institute of Singapore and QIMR Berghofer in four key areas:

  • multi-omics (analysis of large datasets of biological components, including genes, proteins and lipids, to identify markers of disease processes)
  • Epstein-Barr virus (EBV) pathogen and host genetics (the impact of genetic variation on responses to EBV infection )
  • neurology (the study and treatment of nervous system disorders), and
  • T-cell immunity (immune response of specialised white blood cells called T cells) and effect of EBV infection on T cell function

It aims to address the significant knowledge gaps in MS research that hamper advances towards better clinical outcomes for people with MS.

Diagnosis deficiencies

Today, a diagnosis of MS is made using a combination of clinical signs and symptoms, MRI scans and perhaps a lumbar puncture. However, clinical symptoms and signs may not be apparent until the disease has progressed, delaying diagnosis and preventing diagnosis in very early stages. There is no single diagnostic test for MS, no way to predict an individual’s risk of MS and no way to predict how it will progress once established.

The primary aim of GEMS is to address these deficiencies.

Improved screening

Multiple research studies have determined that EBV is a major risk factor for MS, and people with MS carry a higher than usual EBV viral load. GEMS will leverage this connection to potentially improve MS screening and earlier diagnosis.

Researchers will take saliva samples from people with MS and people who do not have MS and extract the person’s DNA as well as that of the EBV virus, which can be found in the saliva of anyone who has been infected. They will then analyse the DNA and establish whether there are specific EBV genetic variations or strains that lead to greater MS risk. Each identified EBV strain will be given a risk score, considering both the virus and the person’s genetics, creating a collection of EBV reference genomes (the complete set of genetic material present in each strain) specifically applicable to Australia.

This will improve MS screening — a simple test to find out which EBV strain you carry will establish your risk level, potentially resulting in earlier diagnosis and therefore earlier treatment.

Defining the DNA sequences of EBV will also better inform EBV vaccine design and contribute to preventative strategies against MS.

Earlier diagnosis

The GEMS team plans to use an advanced method called multi-omics to identify specific biomarkers in the blood associated with onset and progression of MS.

Biomarkers are molecules that indicate normal or abnormal body processes and can serve as early warning systems for the presence of disease.

Blood samples from people with MS and those without MS will be studied for differences in genetic information. Researchers will also measure molecules in blood that can act as biomarkers, such as proteins and lipids, and identify those associated with MS.

If discovered, reliable biomarkers for MS can be used to help diagnose MS earlier, predict disease progression and help develop personalised treatment to reduce disability. They will also significantly improve MS clinical trials and medical practices.

Refined treatments

Lastly the GEMS team will use the insights derived from the above research to potentially improve treatments for MS . For example, they will evaluate the impact of EBV infection on the immune system, specifically on white blood cells known as T cells.

T cells help protect your body from infection, but in cases of EBV infection T cells sometimes respond to both EBV molecules and similar-looking human molecules, and we don’t know why. This can result in T  cells attacking the body and lead to the development of autoimmune diseases such as MS.

Understanding the basic T-cell immunology of EBV infection can help us understand the role EBV plays in the development of MS. This in turn can potentially lead to refinements of existing T-cell immunological therapy, such as that developed by GEMS collaborators from QIMR Berghofer.

How to participate

The GEMS team is looking for both people with MS and people without MS to participate in the study.

Participation involves:

  • completing a questionnaire (approx. 5-10 minutes)
  • providing three saliva samples (postal submissions accepted)
  • giving a blood sample (optional)

To volunteer and complete the screening visit

For more information contact Dr Chhavi Asthana, Postdoctoral Research Fellow, MS Research Flagship, Menzies Institute for Medical Research.

📞: (03) 6226 4226



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Multiple sclerosis genetics study