AS is a painful and progressive form of inflammatory arthritis, affecting around 200,000 people in the UK. The disease has a strong genetic basis and is more common in men in their late teens or 20s. AS causes inflammation in the spine and other joints, leading to pain, stiffness, and fatigue.
Although treatment for AS has greatly improved in the past decade, a definitive cure has not yet been found and many patients suffer persistent disease or unacceptable side effects from current therapies.
Previous work has shown that specific regions of our DNA may play a crucial role in how our genes are expressed in inflammatory diseases, such as AS. Establishing these genetic associations may hold the key to new treatments and that is what Dr Vecellio's work will focus on.
Looking at the RUNX3 gene, the research programme will explore (1) how the RUNX3 gene itself is controlled, (2) how the AS-associated genetic variants alter the function of RUNX3 (3), the other genes it influences, and (4) in which particular cells it exerts its pathological effects in AS.
"The intensive and thorough research programme will dramatically increase our knowledge of RUNX3. RUNX3 has emerged as one of several genes associated with AS. Its role in the maturation of various immune cell types makes RUNX3 dysregulation a possible explanation in understanding how AS works, both from a biological and disease standpoint" says Dr Vecellio.
He adds: "The project funded by Arthritis Research UK will dissect the epigenetic regulation behind RUNX3 using a functional genomics approach. This knowledge will help us to define specific molecules or cells to target in the future for treating AS".
The Arthritis Research UK five-year Fellowship will start in June this year.