Contributions to Science1. Genetics of rheumatoid arthritis and other autoimmune diseases. I was among the first to clone and sequence the major MHC class II alleles associated with rheumatoid arthritis and I formulated the “shared epitope” hypothesis to explain these complex associations in the mid 1980’s. This work has remained seminal in the field, and I have continued to collaborate on refinements of this hypothesis. In 2013 I was awarded the Crafoord Prize by the Royal Swedish Academy of Sciences in recognition of this body of work.2. Functional studies of autoimmune disease risk loci. Following on the identification of multiple risk genes for autoimmunity, I have extended my work into understanding the functional significance of these associations, with a particular focus on relating risk alleles for quantitative immune traits that may form targets for improved diagnosis and therapy. To facilitate this work, I have set up a “living biobank” of approximately 5,000 subjects who are genotyped for the autoimmune disease risk loci and can be recalled on the basis of genotype for detailed phenotypic studies.3. Phenotyping of inflammatory tissues in rheumatoid arthritis. I have been a co-PI on the Accelerating Medicines Partnership (AMP), a large collaborative effort to define the cellular and molecular characteristics of inflammatory tissues in rheumatoid arthritis. 4. Genetics of absolute pitch and synesthesia. For the last 20+ years I have explored the genetic contributions to a rare cognitive trait, absolute pitch. This work emerged from my dual interests in science and music. We have documented the prevalence of absolute pitch, its likely dependence on both genetic and environmental factors, and its relationship to synesthesia, with which it overlaps genetically. 5. The role of endometrial stromal cells in the pathogenesis of endometriosis. We have developed methods of collection and analysis of menstrual effluent that reveal a role for endometrial stromal cells in the pathogenesis of endometriosis.