Exploring the role of polygenic risk scores in predicting diagnosis, disease complications and treatment response in SpA (PreDicT SpA) (360G-Wellcome-227514_Z_23_Z)

Background Spondyloarthritis’ (SpA) is a disease caused when the body's immune system, that normally fights infection, starts causing inflammation in the back/hip joints. SpA patients can also have inflammation in other joints, the eyes, the bowel or skin psoriasis. The three main types of SpA are axial spondyloarthritis, axial psoriatic arthritis and peripheral psoriatic arthritis and they are all treated slightly differently. However there are no tests to help doctors diagnose and treat SpA. This delays diagnosis by years in many cases, causing pain and disability. DNA is in every cell in our bodies and everybody's DNA is unique. DNA contains millions of genes which either increase or decrease your risk of different diseases. Polygenic Risk Scores (PRS) measure the combined effects all these genes to try and predict things like who might develop a certain disease. Approach The aim of my research is to create a new PRS that can predict who: - Will get axial or peripheral SpA - Is at risk of complications from SpA - Will respond to their SpA medication Impact PRS could help speed-up diagnosis of SpA by years and help doctors to choose the right medicine. This would prevent pain, disability and save the NHS millions.