Applying transcriptomic data to identify novel genes and disease clusters in congenital neutropenia

Study code

Lead researcher
Sarah Westbury

Study type
Participant re-contact

Institution or company
University of Bristol

Researcher type

Speciality area
Genomics and Rare Diseases, Haematology


“Congenital neutropenia” (CN) describes a group of disorders where the number of neutrophils (a type of white blood cell) in the blood is low. This causes an increased risk of severe infection. Some forms of CN are also associated with other health problems, including other immune system or blood problems, or an increased risk of blood cancer.

Variants in >10 different genes are already linked clearly to CN. However, >90% of new patients with CN referred for NHS genetic testing remain unsolved suggesting that other genes not included in the panel are responsible for CN in some of these patients.

This study will look at which genes are switched on and off in neutrophils in people with different forms of CN, compared to people without CN. The patients were recalled from the Stem Cell and Myeloid Disorders (SMD), Bleeding, thrombotic and Platelet Disorders (BPD), and Primary Immunodeficiency (PID) cohorts at the Rare Diseases BioResource.

The first aim is to use this information to identify new genes that cause CN. The second aim is to better understand the similarities and differences between subtypes of CN and use this to predict which patients are at risk of other health problems such as leukaemia. This study will improve both the diagnosis and management of patients with CN.

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.