MS outcomes are very different between people, ranging from very mild, with no significant persistent disability to very severe disability after a few years. At present, the ability to predict a person’s likely MS outcome at first diagnosis is limited.
During this fellowship, Dr Jokubaitis aims to better understand who with MS is likely to have mild disease, and who is likely to develop significant disability. To do this, she will first conduct a genetic study to determine whether she can find inherited differences between people with mild and severe disease and therefore determine which genes can predict progression of a person’s MS.
Once genetic differences are identified, the second part of the fellowship will use these differences to build statistical models to determine just how important they are in controlling long-term outcomes compared to demographic factors (such as age and sex), clinical factors (such as an individual’s disability scores, relapse history, MRI), and treatments. This will allow Dr Jokubaitis to find out whether genes determine MS outcomes, or whether outcomes can be modified.
The research, if successful, will offer people with recently confirmed MS a better understanding of their likely prognosis and therefore inform treatment choice (balancing benefit and risk for their individual situation and ensure that people with MS are receiving the best possible treatments and care strategy for them.
The main focus of this research is to whether a person’s genetic make-up has an impact on whether they are likely to develop mild or severe MS, with a focus on relapsing-remitting MS. A number of studies have previously been published that suggest that genes could determine MS severity. The first part of Dr Jokubaitis’ Fellowship was to see if these past findings could be replicated in a group of people with mild or severe MS, where severity was determined based on long-term follow-up. Of 109 previously published genetic changes thought to be associated with disease severity, Dr Jokubaitis has validated one genetic change.
The second aim was to run a genetic analysis from scratch and look for new associations between a person’s genetic make-up and disease severity. This project is going very well, with early results suggesting that there are likely new genetic variations associated with mild and severe disease, potentially unlocking new avenues for research. This analysis is still underway, with full results expected shortly.
Dr Jokubaitis has also been supervising an Honours student, and developed two surveys to ask patients about exposure to environmental factors that have been shown to be associated with MS risk, and that could influence MS disease severity (such as smoking, vitamin D, and body mass index). One survey will be incorporated into the international MS registry MSBase, with which Dr Jokubaitis is highly involved. This will help us to gain a better understanding of which environmental factors influence disease severity and complement the work of the fellowship.
Dr Jokubaitis has also developed a number of international collaborations with world leading MS genetics researchers for this project. Dr Jokubaitis’ patient samples will be used as confirmation samples in the international studies and the international collections will act as confirmation collections for any findings from Dr Jokubaitis’ work.
Updated: 20 April 2018
Updated: 11 February, 2017