BRIDGE Bleeding and Platelet Disorders study
Institution or company
University of Cambridge
Haematology, Genomics and Rare Diseases
There are about 7000 inherited rare diseases. Genetic causes have only been identified for about half of this rare disease population. Bleeding, thrombotic and platelet (BPD) disorders are rare and cover a range of diseases which do not always have identified genetic changes associated with them to support a diagnosis. The NIHR BioResource has been recruiting patients with BPD to their rare disease BPD cohort (RDC-BPD) since 2013. Many blood samples have been donated from individuals with BPD, some who know the cause of their disease and others that don’t. This large bank of samples has enabled researchers to study DNA and undertake whole genome sequencing – a read out of all your DNA – your genome. By comparing your genome and understanding how it is similar and different to others, it is possible to learn more about the disease process and why your disease may develop. These studies also help towards designing new treatments.