I joined the Arthritis Research UK Epidemiology Unit in 1998 after being introduced to the field of Genetics of Complex disease when I undertook a laboratory-based research project as part of my MSc in Clinical Rheumatology, in 1997. By this time, I had developed a real enthusiasm for research and subsequently applied for and was awarded a MRC Clinical Training Fellowship. I undertook linkage and association analysis in RA families homologous to those identified in animal models of arthritis. This novel approach led to the identification of a region on chromosome 17q as a potential rheumatoid arthritis (RA) disease locus. The results of this work formed the foundation for my successful Wellcome Trust Advanced Fellowship application, which was awarded in May 2003 and extended for one year in May 2006.
Since completion of my Wellcome Trust Advanced Fellowship, I have been involved in the Wellcome Trust Case Control Consortium study to perform a genome-wide investigation for 7 common diseases, including rheumatoid arthritis, which was published in Nature. Excitingly, a novel rheumatoid arthritis susceptibility locus was detected and confirmed in replication studies leading to a further high-profile publication. Work is underway to identify the causal variant and determine how it contributes to disease.
I have a program of work in pharmacogenetics, particulalry in predicting response to treatment in patients receiving biologic therapies for their arthritic diseases. I have established the Biologics in RA Genetics and Genomics Study Syndicate (BRAGGSS), comprising the rheumatologists at the larger prescribing centres across the UK, and co-ordinate the collection of DNA samples from patients treated with these agents at these centres. The collection is now by far the largest in the world (approximately 4,000 patients with DNA and >1,000 with additional samples, e.g. RNA) and represents a unique resource because of the richness of the phenotypic data available.
I have a strong interest in the genetic presdisposition to psoriatic arthritis, the second most common of the inflammatory arthritic diseases. I lead a UK consortium trying to identify susceptibility genes and I chair the PAGE (Psoriatic Arthritis Genetic European) consortium to establish a European-wide collaboration to take this field of research forward.