RNA phenotyping in early progressive lung disease

Study code

Lead researcher
Alice Turner

Study type
Participant re-contact

Institution or company
University of Birmingham

Researcher type

Speciality area
Respiratory Disorders, Genomics and Rare Diseases


Alpha 1 antitrypsin deficiency (AATD) is a rare disease which predisposes patients to emphysema. Non-progressive lung disease is relatively uncommon in AATD, such that studying those with progressive disease and comparing to those who do not could detect biological processes that protect the lung or cause deterioration.

This project will enrol progressive and non-progressive patients, aiming to match them on factors such as age, sex and lung function, aiming for 2 progressing patients to each non-progressor, and a total of 60 individuals. The patients were recalled from the Alpha-1 Antitrypsin Deficiency (AAT) cohort at the Rare Diseases BioResource. By matching we hope to control for some of the factors that are also known to influence lung disease. We will collect blood and obtain sequencing of RNA (a measure of active genes, which go on to form proteins) from cells such as neutrophils, platelets, monocytes and CD4 cells.

Neutrophils in particular are important in AATD because they produce an enzyme that can damage the lung, though other immune cells also play a role. We will combine this data with information we have from other projects which look at DNA and proteins. Comparisons of the networks of genes and proteins between progressing and stable patients may help us to understand pathways that could guide treatment in future.

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.