Meet The Researcher

I have worked in many countries around the world and I am constantly impressed at the leading role Australian MS researchers have in improving outcomes for people living with this disease.

Two things have inspired me to become involved in MS research. The first and foremost is the fact that my partner is a leading clinical expert in MS. The second is having met so many people affected by MS there was an obvious need for more knowledge to be forthcoming about the molecular events associated with disease risk and progression.

For me, the most exciting development in MS research has been the coalescing of several different paths of investigation such that a more holistic understanding of the disease is becoming apparent. With this increased understanding it is to be expected that improved outcomes for people living with MS will be forthcoming.

Epigenetics refers to the heritable but modifiable mechanism of gene regulation and is a new frontier in MS research because it provides a biological interface at which the relationship of genes and the environment can be mediated to influence disease risk, severity and response to treatments. DNA methylation is a well-characterised epigenetic mechanism that can be cost-effectively evaluated at the genome-wide level with the aid of high throughput scanning technologies and suitable bioinformatics techniques. The objective of this study will investigate DNA methylation in MS patients with the view of identifying new markers associated with disease severity. Successful completion of this research will reveal new molecular targets for predicting disease progression and optimising treatment strategies for preventing accumulation of disease disability.

The majority of patients diagnosed with MS have relapsing remitting disease (i.e. relapsing remitting MS or RRMS) which is amenable to disease modifying therapies (DMTs). For patients with secondary progressive (SPMS) or primary progressive disease (PPMS), disease modifying therapies are ineffective. Genetic differences between patients with RRMS, SPMS/PPMS are poorly understood. Other non-inherited factors may influence the genome, which are acquired over time, known as epigenetics. The most studied epigenetic change is associated with DNA methylation, which can affect gene expression. Importantly, epigenetic change is influenced by environmental factors such as smoking, vitamin D levels and EBV infection – all associated with MS risk. The project aims to examine epigenetic differences between age-matched patients with mild, compared to severe disease. This knowledge may lead to treatments for patients with severe disease which have hitherto remained stubbornly intractable.

The most enjoyable aspect of working in my research role is working with highly talented people who share the same passion to discover what drives disease processes and how we may be able to influence these to improve the outcomes of people living with MS.