What is the BRIDGE Project

The BRIDGE consortium has been established as an organisational umbrella for NIHR BioResource funded Next Generation Sequencing (NGS) projects which aim (i) to discover sequence variants underlying hitherto unresolved inherited Rare Diseases or (ii) to evaluate the sensitivity and specificity of exome sequencing or other NGS approaches to identify already known high penetrance Rare Disease-causing variants.

The Analysis Teams for BRIDGE studies will share sequence information at an early stage as to enhance the power of discovery of causative variants. Sequence information of BRIDGE cases together with high level diagnostic category information will be released to the research community via the European Genome-phenome archive at the European Bioinformatics Institute (EGA).

Clinical cases for BRIDGE studies will be enrolled in the UK in the NIHR BioResource using a universal Rare Diseases Stage 1 consent. The NIHR BioResource is a collaboration between the NIHR-funded Biomedical Research Centres and Units in England to (i) improve the diagnosis of Rare Diseases and to support (ii) experimental medicine studies and (iii) future clinical studies of stratified medicine.

Clinical cases from non-UK centres can be enrolled in a BRIDGE study.

If you are a clinician or a patient and would like to receive further information about the BRIDGE studies please e-mail rarediseases@nihrbioresource.org.uk

A Memorandum of Understanding outlining the principles of collaboration underpinning BRIDGE studies is available upon request.