RAB3D variants in innate immunity v1
Research type
Research Study
Full title
RAB3D variants in innate immunity
IRAS ID
290486
Contact name
Andres Floto
Contact email
Sponsor organisation
Royal Papworth Hospital
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
We are interested in understanding a condition called bronchiectasis. Bronchiectasis is a long-term lung condition that results in repeated chest infections and progressive lung damage. It is suspected that some people are at greater risk of developing the condition if their immune cells respond to bacteria in an abnormal way.
We performed a recent genetic study of people with bronchiectasis, and identified the condition was associated with a change in a gene called RAB3D. 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 subtly affect how immune cells work and may increase the chances of a susceptible person developing bronchiectasis.
We will examine immune cells from people with and without this gene change and see if there are differences in how their immune cells respond to bacteria.
If we show that cells taken from people who have the gene change act differently in how they respond to bacteria compared to those who don’t, then this may in part explain why bronchiectasis develops in some people.
This finding would hopefully spur on future research into this change, with the final aim of identifying new medicines that may help the condition.
REC name
Wales REC 6
REC reference
21/WA/0037
Date of REC Opinion
8 Feb 2021
REC opinion
Favourable Opinion