RNA phenotyping in heritable platelet disorders

Study code

Lead researcher
Andrew Mumford

Study type
Participant re-contact

Institution or company
University of Bristol

Researcher type

Speciality area
Haematology, Genomics and Rare Diseases


Platelet disorders are a complex group of inherited blood diseases that often result in abnormal bleeding but can also sometimes cause other serious health problems including leukaemia. Looking carefully at DNA from families with platelet disorders reveals the underlying cause in about half of cases. However, in the remainder the underlying genetic cause cannot be identified probably because the genetic changes are in areas of DNA that are distant from known platelet genes.

We believe that examining mRNA from blood platelets and from other blood cells will help us narrow down the search for the underlying genetic changes, particularly in these distant regions. Discovering the genetic changes that underly platelet disorders will help doctors advise families about the risks of bleeding or other possible health problems and to select the best way of early detection or prevention of these.

The patients were recalled from the Bleeding, thrombotic and Platelet Disorders (BPD) cohort at the Rare Diseases BioResource.

This study is part of our Rare Diseases RNA Phenotyping Project. Each participating study in the project is included in a collection hosted on our main studies page.