There are over 400 rare diseases of the skeleton and for many of them there are no treatments and little understanding of why they happen. The aim of this GeCIP domain is to use the extensive expertise within the UK to make the most of the information from the 100,000 Genomes Project, so that we can develop better tests and treatments for people with these conditions. We will achieve this by supporting patients with rare bone diseases to get into the project and then, when their results are known, work with them and their doctors to understand the results better.
We will study the information from patients (including their symptoms, healthcare usage and X-ray changes both cross-sectionally and longitudinally) to determine sub-phenotypes and link this to their genomic data. This improved scientific understanding will be vital for developing better tests and treatments to improve the care and quality of life of patients. We will study how these new tests and treatments can work for patients in the NHS.
Finally, this GeCIP is committed to providing the best training for the next generation of doctors and researchers in rare diseases of the skeleton.
- February 9, 2018
- Musculoskeletal GeCIP Domain