30 March 2021
Our Young Investigator Award encourages the work of young rheumatologists and recognises excellence in early career researchers. One of this year’s winners is Melissa Tordoff from the University of Manchester. Currently studying for her PhD, Melissa's research focus is on uveitis, a serious complication of juvenile idiopathic arthritis (JIA).
Tell us about your research?
My research looks at genetic risk factors associated with increased risk of uveitis in patients with JIA. Uveitis can lead to permanent blindness, but the earlier children are diagnosed, the more effectively you can treat them. We want to try and quantify genetic risk factors so they can be incorporated into future screening guidelines.
What analysis have you done?
I’ve conducted association analysis of over 4,000 samples; around 500 have uveitis. It’s the largest fine-mapping study of the human leukocyte antigen (HLA) genes in JIA and shows there’s a strong chance these genes are a quantifiable risk factor. We’ve found HLA alleles associated to uveitis in JIA patients in our cohort, which could be used to define genetic risk for predisposition to uveitis. The ultimate aim is that we can define genetic risk factors for uveitis in order to aid early diagnosis.
Genetic risk factors may be incorporated into current screening guidelines in order to refine them. Current guidelines screen JIA patients for uveitis based on clinical features such as ILAR subtype; incorporating genetic risk factors into clinical features to define who is most at risk may allow individuals less at risk to be screened less often, and those most at risk to be diagnosed with uveitis as early as possible.
What else are you working on?
We know that gender is also a risk factor, with females being more at risk of uveitis, and I’m currently conducting an analysis for this. It’ll be exciting to have another quantifiable element we can look at to determine the likelihood of JIA patients going on to develop uveitis.
Why does this area of research interest you?
I’m really interested in rare disease and I like solving puzzles. Research feels natural to me as I’m passionate about helping people in the future. I feel research is a positive way of improving the quality of life for our patients.
What does it mean to win this award?
Having recognition from both BSR and colleagues that my research is important for the future of people with arthritis is so important. It’s motivating and it gives me that drive to work even harder. I can’t wait to share the latest updates on my research at Annual Conference.
How has your award win impacted on you?
An award like this is a great support to the whole team. It’s been a difficult year for everyone and I’ve been unable to conduct as much research as usual during the pandemic, so the win's given us a boost. Personally, to get that recognition as a young researcher has confirmed that a career in research should be my future.
What are your next career steps?
I’m in the third year of my PhD, I’m going to stay in research in the future. Research into rare diseases is important and that’s where I see my future. For the rest of my PhD, I’m going to continue working on uveitis and rare variants in JIA; I hope to publish that before the end of my PhD.
Our awards
Read more about our other award winners: Melissa Sweeney, Dr Kim Lauper