Dr Dagan Jenkins
Institute of Child Health
"Investigating skeletal dysplasias throughfunctional analysis of novel disease genes - towards future therapies"
Disorders of the skeleton range from a variety of important birth defects found in many rare syndromes, to ever more frequent disorders of bone function which affect the elderly, such as osteoporosis. Dr Jenkins' research focuses on the functional characterisation of novel diseases genes that cause rare syndromes, to identify novel mechanisms of pathogenesis and potential therapeutic targets for the treatment of more common diseases.Carpenter syndrome is a rare 'skeletal ciliopathy' caused by mutations in RAB23 and MEGF8, and the involvement of abnormal signal transduction in relation to primary cilia in this condition, as evidenced by work in zebrafish, will be discussed. Furthermore, a novel mental retardation/congenital malformation syndrome which sheds new light on the regulation of bone turnover will also be covered.
Host - Dr Jenny Murdoch