Active BRIDGE Studies - BPD

Bleeding and Platelet Diseases(acronym BPD, project identified B20) - The immediate purpose of this study is to identify the genetic basis of hitherto unresolved bleeding and platelet disorders by exome-sequencing.

Prof. Willem Ouwehand

Prof. Willem Ouwehand

Bleeding and Platelet Disorders (BPD) Rare diseases affect 1 in 17 people in the UK, which is a significant proportion of the population. One group of rare diseases with genetic architecture amenable to allow gene discovery by Whole Exome Sequencing or Whole Genome Sequencing are Bleeding and Platelet Disorders (BPD).

Rare inherited bleeding disorders cause mucocutaneous (skin and mucous membrane) bleeding and can be broadly categorised into abnormalities of plasma coagulation, the formation and function of platelets and impaired vessel wall integrity. For patients presenting with a personal or family history of excessive bleeding or low platelet counts the plethora of tests they must currently undergo is vast and ultimately inadequate in the majority of cases. The growing affordability and development of Next Generation Sequencing (NGS) and DNA capture mean for the first time it may be possible to replace these traditional tests.

The aim of this study is to develop and validate a sensitive NGS-based test to detect clinically relevant variants in at least 150 causative genes. To achieve this the genetic basis of hitherto unresolved bleeding and particularly platelet disorders must first be identified by exome-sequencing (exo-seq). Then both known and newly discovered clinically relevant sequence variants will be curated into a universal and static reference to enable clinical diagnosis from NGS sequence. The benefit to BPD patients will be identification of disease cause, improvement in rate of diagnosis and the potential of higher specificity treatments; thus improving care for those with rare diseases and their families.