The Skeletal Dysplasia Group was founded in 1979 with the aim of promoting teaching and research into the rare developmental disorders of skeletal growth (osteochondrodystrophies). Members include professionals from all relevant branches of medicine and basic sciences including geneticists, radiologists, orthopaedic surgeons, paediatricians, genetic nurses, endocrinologists and rheumatologists.
Membership is limited to medically or scientifically qualified individuals, and run by a committee of management formed by one orthopaedic surgeon, one radiologist and one medical geneticist, although others are co-opted - the aim being to reflect the principal disciplines of those undertaking the investigation and care of these disorders.
COLLABORATORS REQUIRED FOR NIHR RARE DISEASES MUSCULOSKELETAL STUDY:
(Geneticists, Radiologists, Orthopaedic Surgeons).
This is an NIHR funded study to develop new diagnostics and therapies for patients with rare rheumatic disease through improved disease phenotyping and linkage to genes. While Oxford is the hub (led by Professor Wordsworth +rare bone diseases (Javaid) and vasculitides (Luqmani)), its success depends on a national multidisciplinary network. Success will be measured by recruitment and phenotyping of patients with rare diseases. Many of the existing rare disease registers are focused on patient information and diagnostic criteria rather than trying to capture patient level information.
The conditions we are starting with (in children and adults) are osteogenesis imperfecta and fibrous dysplasia. We are working with the Brittle Bone Society and Fibrous Dysplasia Support Society UK to help develop the database and ethics. We aim to start recruiting in April 2014 and have started drafting the protocol and data collection templates, which we would request your input into.
We will have a transparent governance structure for data and sample access as well as publication and future grant funding.
Please email our administrator firstname.lastname@example.org if you wish to join the network and any comments you have for the generic and disease specific templates.
The Skeletal Dysplasia Group was founded in 1979 by the late Miss Ruth Wynne-Davies and Professor Christine Hall.