I grew up in Australia (Melbourne) and the UK. My career working in MS genetic research spans 25 years, including six years working in the Research and Development arm of GlaxoSmithKline in the UK. Here, including investigating potential medicines for neurological diseases including multiple sclerosis (MS), I contributed to the development of two medicines now approved for the treatment of HIV (human immunodeficiency virus infection) and malaria.

After completing my doctoral studies in malaria research, I changed fields to focus on human neurological diseases and how genetic research can be used to understand them. My first foray into this research area began in Oxford and resulted in the identification of a gene that when mutated causes a rare neurological disease called chorea acanthocytosis. During this period (mid-late 90s), advances in gene technology meant that similar work on more common human diseases was becoming feasible. Two studies published in 1996, describing the first genome-wide scans for MS susceptibility genes, whetted my appetite for working on MS. In 1999, I moved back to Melbourne to get started. The rest is history!

Research leading to the development of disease modifying treatments for relapsing forms of MS has been a game-changer for people living with MS. From a geneticist’s perspective, I believe we now have a good understanding of the genes and mechanisms that predispose a person to developing MS, which has contributed to knowledge driving the development of medicines that are currently available.

In recent years, the MS genetics community has focused on trying to understand mechanisms driving progression and inroads have been made. I’m confident that genetic research will continue to reveal insights into mechanisms and genes underlying progression that can inform drug development for progressive MS.

This project builds upon research funded by MS Australia, the Australian government (NHMRC) and other charitable organisations from which we have observed increased DNA damage (in the form of somatic mutations) in single neurons from chronic lesions in post-mortem MS brain tissue. We propose that this prior research points to inflammation in the brain being a potential mechanism contributing to MS progression. The current project will extend upon these findings in a larger number of MS donor brain samples to determine whether specific genes are impacted by somatic mutations more than others and, if so, whether these genes and the protein they code for might represent interesting drug targets for future medicines that can slow down or prevent MS progression. For genes of interest, we will use advanced computational approaches, such as machine learning, to search biomedical databases for information that will help to translate discoveries into clinically informative outcomes.

Of the 14 disease modifying therapies currently available for treatment of MS in Australia, only two* are approved for treating progressive MS. Using advanced genomic and computational methods, our project aims to increase understanding of the mechanisms and genes underlying MS progression. Leveraging this information, our aim is to contribute new and interesting drug targets to the drug development pipeline for progressive MS, with potential outcomes including treatments that slow or prevent progression.

*MS Australia: one of the two is on the PBS (as at February 2025)

The most enjoyable aspect of lab work is knowing that you are doing something worthwhile, and that any findings you make are (most likely) a world-first discovery. The thought that our research could one day benefit the lives of people living with MS is the major motivator. A big challenge facing myself and other MS researchers remains the lack of investment by the federal government in MS - and biomedical research in general. This is why MS Australia and its donors are so crucial for maintaining and growing MS research in this country.