Being a geneticist, it seems appropriate to share a genetics-related fact. Apparently, I carry a gene for clinodactyly (known colloquially in our family as crooked pinky fingers). Although I don’t express the trait, my mum and son do. It’s been a nice way for my son to bond with his nan and has made for a darkly amusing story where my son’s nursery panicked after he took a hands-first tumble in the nursery garden – they thought he’d broken both pinky fingers!

Funnily enough, my wife carries a gene for syndactyly – otherwise known as webbed feet, which in her case is between the second and third toes. Both our kids have managed to dodge this, though they are suspiciously good swimmers.

It was a combination of two main things. First, in my work exploring the role of inflammation in neuropsychiatric conditions, I’ve stumbled across several genetic findings supportive of a relationship between psychiatry and not only autoimmunity, but also viral infections. Second, when reading about the role of viral infections in human disease, I naturally came across the recent (and very inspiring)work exploring the role of the Epstein-Barr virus (EBV) in MS. I’m always eager to explore new opportunities to learn and apply myself to new challenges.

The recent studies alluded to above have provided very convincing support for a causal role of the Epstein-Barr virus (EBV) in MS risk and have also highlighted several plausible mechanistic links. Not only are these studies applying cutting-edge and highly innovative methods and designs, but they also suggest we may be able to lower MS risk by treating or preventing EBV infection. This is an incredibly exciting area of research to watch unfold.

The current project will lay the foundation for us to apply a novel human research design called ‘recall by genotype’ where we will look for biological differences between participants with either a ‘high’ or a ‘low’ genetic risk of MS. Whereas most MS studies in humans compare people with and without disease (often referred to as case-control studies), none of the participants in this study will have MS. This means that any differences we find between the genetic risk groups are more likely to reflect causal biology rather than biological consequences of already having MS. We will also explore potential ethical issues concerning the use of RbG in MS research and determine how best to communicate personal genetic information directly to participants.

The RbG design is an innovative approach that, to our knowledge, has not yet been utilised in Australian research or the MS field internationally. Consequently, we expect to generate findings that will complement those from other approaches (e.g., animal, human cell culture) already being applied in the MS field.

Moreover, human studies leveraging genetic data have been extremely useful in disentangling causal from other (e.g., correlated, consequential) disease mechanisms, so the findings from this and subsequent RbG studies have the potential to inform MS treatment and/or prevention. Since we will compare the levels of >1,000 proteins between the two MS genetic risk groups, this project may also highlight novel early MS biomarker candidates.

I most enjoy the problem-solving aspects of research, particularly the process of uncovering the biology underlying genetic discoveries. This is a huge challenge because genetic discoveries only tell us which regions of the genome are associated with human diseases and traits, not ‘how’ they are associated. The ‘how’ is crucial if we hope to translate genetic discoveries into clinically useful biomarkers, treatments, or preventive measures.