Meet The Researcher

grew up in Australia (Melbourne) and the UK. As a teen, I was an English Schools javelin champion. My career working in MS genetic research spans 20+ years, including 6 years in pharma, where I also contributed to the development of two new medicines for the treatment of HIV and malaria

My first post-doctoral studies were conducted at the Wellcome Trust Centre for Human Genetics (Oxford, UK), where I worked on gene discovery for a rare neurological disease. During this period (mid-late 90s), gene technology developments meant that similar work on 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 therapies for relapsing-remitting disease has been a game-changer for people living with MS. From a genetics 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 medicines development. In recent years, the genetics community has focussed on trying to understand mechanisms driving MS progression. In the near future, I’m confident that genetic research will contribute to medicines development for progressive MS.

This project will follow up on preliminary work in which we observed increased DNA damage (in the form of somatic mutations) in single neurons and oligodendrocytes in post-mortem PPMS brain tissue from the MS Australia brain bank. If our prior observations are validated in additional samples, it may identify a novel mechanism contributing to PPMS and MS progression more generally.

Of the 14 disease modifying therapies currently available for MS, only one is approved for treating PPMS. Our study is using single cell genome sequencing to determine whether DNA damage to neurons and oligodendrocytes is a characteristic feature of PPMS. Therefore, if our preliminary findings are validated, this project could underscore DNA damage to neurons and oligodendrocytes as an important disease mechanism, which could in turn lead to new avenues of drug discovery.

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.