David Kelsell

Professor David Kelsell is non-clinical Professor of Human Molecular Genetics at the Blizard Institute within the School of Medicine and Dentistry at Queen Mary University of London. After graduating from Sheffield University, he was awarded a PhD on the “Genetics of familial breast cancer” at the Open University/Cancer Research UK. He then had two short positions as a postdoctoral fellow at Barts and The London and then as investigator at GlaxoSmithkline.

His long-term research has largely focused on rare genetic skin diseases and has led to identification of many disease genes in the Palmoplantar Keratodermas (PPKs) and ichthyoses. The study of PPK disease syndromes also led to discovery of GJB2 mutations as the major cause of genetic hearing loss, desmoplakin mutations with cardiomyopathy and, more recently, iRhom2 mutations and oesophageal cancer predisposition. Over the years with the relatively ease of high throughput sequencing for disease gene identification and genetic diagnosis, his research has shifted more towards cell biology, biochemistry, signaling and model systems to understand skin disease mechanisms. For example, recently his group has shown iRhom2 to regulate epidermal thickening and also be a key player in modulating the cytoskeletal stress response.