Genetic Changes in Bronchiecstasis

Study code
CBR212

Lead researcher
Professor Andres Floto

Study type
Participant re-contact

Institution or company
MRC-LMB

Researcher type
Academic

Speciality area
Respiratory Disorders

Recruitment Site
Cambridge

Summary

Bronchiectasis a long-term lung condition that results in repeated chest infections and progressive lung damage. 

A recent genetic study of people with bronchiectasis identified a change in a gene called RAB3D that might subtly affect how immune cells work.  

The change was common in the healthy population, but the proportion of people with bronchiectasis who had it was higher. We suspect that this gene change, when combined with other gene changes and environmental factors may result in someone developing bronchiectasis.  

We will examine immune cells from people with and without this gene change, and see if there are differences in how their white blood cells respond to infection.