In collaboration with colleagues nationally, we are assessing the effects of antenatal vitamin D supplementation on skeletal development and health we have developed a model system of antenatal vitamin D depletion in which we are assessing the postnatal response to mechanical loading. We have developed a new biomarker to assess the acute skeletal response to mechanical stimulation that is now being used in prospective studies of children with fracture and OI. We participated in the global studies of asfotase alfa, a recombinant enzyme replacement therapy for hypophosphatasia (HPP), leading in Europe initially with children travelling from other EU countries to participate. We recruited the first UK patient to the Amgen-funded study of Denosumab in OI. Our previous clinical studies of the use of bisphosphonates in osteogenesis imperfecta (OI) showed that bone mass increases in a dose-responsive manner in moderate-severely affected children without a clear reduction in fracture risk and that mildly affected children can reduce fracture risk by approximately 50% when taking the oral bisphosphonate risedronate. We are working with colleagues locally and nationally to determine the phenotype-genotype relationships in early onset bone fragility disorders, and to develop a pipeline to bring forward new therapies in these disorders.
Our research aims to improve outcomes for children with inherited and acquired bone diseases and understand better the factors contributing to fracture in apparently healthy children. Appointed to Chair in Sheffield in 1998.Ĭlinical research group focuses on the treatment of childhood bone fragility and rare bone diseases basic science group on early life events and skeletal development, as well as the pathophysiology of childhood bone diseases. Trained in Manchester (clinical), Cambridge (MRC and Wellcome Fellowships) and Montreal (visiting Professor at McGill). Conferences, events, visitor accommodation and weddingsįor enquiries please contact - UK's only Professor of Paediatric Bone Disease.Worldwide Universities Network at Sheffield.Research centres, institutes and networks.Coronavirus: our research and innovation.Department of Infection, Immunity and Cardiovascular Disease.Department of Infection, Immunity and Cardiovascular Disease.PhD with Integrated Translational Neuroscience.Cavendish Foundation Appeal Scholarships.