RNA phenotyping in blood cell autoimmunity

Study code

Lead researcher
Nichola Cooper

Study type
Participant re-contact

Institution or company
Hammersmith Hospital, Imperial College Healthcare NHS Trust

Researcher type

Speciality area
Genomics and Rare Diseases, Haematology


Blood cell autoimmunity (BCA) are rare diseases characterised by low blood cell counts. They can present at any age and cause significant medical problems. There is no diagnostic test, and little understanding of the cause of the disease. There are many new treatments for these patients with responses in about 40-50% of patients. However, there are no markers to help us decide which treatment a patient should get, and patients often cycle through many treatments until they achieve a response.

Immune thrombocytopenia (ITP) is the most common BCA and can cause life-threatening bleeding as well as very poor quality of life. Probable or possible genetic causes were found in 20% of cases in a pilot study of 80 patients in earlier NIHR genetic studies (GEL and BRIDGE), showing that gene sequencing is helpful, but also highlighting that new approaches are needed.

New sequencing methods through the Rare Disease RNA Phenotyping Project, measuring gene expression in different blood cells, will help us to: a) understand the disease better; b) find diagnostic tests; and c) develop biomarkers that can be tested in national and international clinical trials.

The patients were recalled from the Refractoriness First-line Treatment for Blood Cell Autoimmunity (BCA) cohort at the Rare Diseases BioResource. Our findings will also help us to develop new treatments for patients who do not respond to any of the drugs now available.

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.