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.

Our recently published research shows that DNA from nerve cells located in MS brain lesions mutates at an accelerated rate compared to other nerve cells. As strong inflammation occurs in MS brain lesions, we think that it is somehow involved in causing mutations to nerve cell DNA, which is likely to affect the function of nerve cells and their viability. However, an important question we don’t know the answer to yet is whether inflammation is the cause of the increased mutation rate in nerve cells, or whether the nerve cells are already disposed to an accelerated mutation rate, which drives inflammation and the damage associated with it.

Therefore, to determine whether inflammation is the cause, or an effect of the accelerated mutation rate in nerve cells, this project will investigate mutations in DNA from cells in lesion biopsy samples from people at an early stage of their MS course.

This research project seeks to increase understanding of the pathophysiological mechanisms and genetic drivers of MS progression. It is envisaged that outcomes from this project will include significant knowledge gain regarding the role of inflammation in neurodegeneration and MS progression, which may lead to new therapeutic targets and treatments.

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.