The UK National Juvenile Dermatomyositis cohort : genotype/phenotype studies, and their application to mechanisms, clinical course and outcomes. (360G-Wellcome-085860_Z_08_Z)

This application is to request funding of a cohort of children with myositis, now one of the largest of its type in the world, that can make a major international contribution to the field. The cohort comprises clinical data linked to biological samples (serum, plasma, DNA, PBMC and muscle biopsy tissue), contributed from a Network of centres across the UK (see Appendix1). Standardised clinical data are collected using validated, internationally agreed, robust, clinical tools. Data and samples f rom several years are available, allowing studies of response to treatment, biomarker and candidate gene discovery, including genotype/phenotype correlations, and long-term disease outcomes. The resource is managed by an independent Steering committee, with patient involvement, and is available to the scientific community through an open application process. The resource is much in demand from UK and International researchers; several research projects are planned and funded. For this resource t o survive, the core needs include an Administrator, a Research Assistant, and running costs. A key objective of this proposal is to further develop availability and visibility of the resource through a website, making it more accessible to the wider scientific community, allowing information and data generated to make a larger impact upon health outcomes.