Clinical Genetics

About 1 in 40 babies is born with a serious congenital abnormality: in many cases, this is caused by alterations (mutations) in genes involved in the normal process of embryonic development. Many important malformations affect both the skull and limbs, suggesting that similar developmental processes are used to build these distinct structures. The Clinical Genetics lab is investigating these processes by identifying the causative mutations, particularly in patients affected with skull malformations. Such individuals frequently require corrective surgery and the group collaborates with the Department of Plastic Surgery in Oxford in the investigation of their patients. The work is principally funded by the Wellcome Trust, with contributions from the NIHR Oxford Biomedical Research Centre and US National Institutes of Health.