The Genomic Medicine Group studies how genetic variation shapes human disease, with a particular focus on the skin. We combine large-scale sequencing and genotyping data with statistical and computational methods to identify causal variants, understand the mechanisms they act through, and translate those findings into better diagnosis and treatment.

Our work spans two connected areas. In rare Mendelian disease, we use sequencing to resolve cases that have eluded traditional gene-mapping approaches. The group's rare disease exome sequencing programme has identified more than thirty novel genetic causes of Mendelian disorders, including the genes underlying Hajdu-Cheney syndrome, Wiedemann-Steiner syndrome and GM3 synthase deficiency. In common complex disease, we work primarily on inflammatory and immune-mediated skin conditions, including psoriasis, acne, and related traits, using large-scale genetics and functional genomics to investigate disease susceptibility, trajectories, and therapeutic response.

Much of the group's work is method-led and collaborative. We develop and apply analytical approaches for large genomic datasets, and we work closely with clinical colleagues at King's and across international consortia to make sure the questions we ask are ones whose answers can change practice. Professor Simpson co-leads the international Skin Genetics Consortium, through which much of the group's common-disease work is conducted, and the group contributes to genomics initiatives in partnership with the NHS Genomic Medicine Service.