Pharmacogenomic studies in Multiple Sclerosis

Research Opportunity
Masters by Research, Honours
Project Status
Medicine and Radiology
Royal Melbourne Hospital
Supervisor Email Number Webpage
Dr Vilija Jokubaitis Personal web page
Prof Helmut Butzkueven 61 3 93427061 Personal web page

Project Details

Synopsis Multiple sclerosis, an autoimmune, neurodegenerative condition, is the most common cause of non-traumatic neurological disability in young adults. At present twelve immunomodulatory or immunosuppressive therapies with varying levels of treatment efficacy are approved for the treatment of MS in Australia (13 globally). All drugs have been shown to reduce relapse rates in clinical trials, and some have also been shown to have disability progression and MRI benefits. However, individuals are known to have variable responses to these therapies, and can be classed as treatment responders, intermediate responders and non-responders.

This project aims to identify genetic markers of treatment response to three of the newer, and more commonly prescribed MS drugs; the monoclonal antibody against 4-integrin, natalizumab, the sphingosine-1-phosphate receptor modulator, fingolimod, and the monoclonal antibody targeted against the B-Cell antigen CD20, rituximab. This PhD project will utilise genetic data that is linked to a global observational cohort to identify genetic markers of treatment response and non-response.

Outcomes and impact

The identification of genetic predictors of MS treatment response will have a significant impact on MS clinical management, and treatment decision making. It will allow the stratification of patients for therapeutic choice, reduce treatment trial-and-error and prolong patient quality of life. Research Environment

The proposed project will be undertaken using the MSBase Registry, an international, prospective, observational MS cohort study. It currently contains over 50,000 longitudinal patient records, with over 230,000-patient years of follow-up. Within the MSBase observational cohort study, we have formed a special interest group to examine genetic factors associated with disease outcome and treatment response. This group comprises 12 centres that have the capacity to undertake genetic studies. Here, our cohort comprises 8,574 patients, with 60,000 patient-years of follow-up with visits occurring on average every 6 months, thus allowing for accurate stratification of treatment responders and non-responders.

Faculty Research Themes


School Research Themes

Neuroscience & Psychiatry

Research Opportunities

Masters by Research, Honours
Graduate Research Students who are interested in joining this project will need to consider their elegibility as well as other Graduate Research requirements before contacting the supervisor of this research

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Key Contact

For further information about this research, please contact a supervisor.


Medicine and Radiology

Research Node

Royal Melbourne Hospital

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