BACKGROUND:

The cause of bronchiectasis is unknown in ~40% of all bronchiectasis cases.

Primary Ciliary Dyskinesia (PCD) – a rare, genetic condition affecting the structure, number and function  – is reported to account for ~3% of bronchiectasis cases, yet this condition is often underdiagnosed.

Interestingly, data from the 100,000 Genome Project reports that ~12% of those with unexplained bronchiectasis had previously unrecognised PCD, and undiagnosed PCD was identified in ~3-4% of those enrolled in our EMBARC-BRIDGE study.  

STUDY OVERVIEW:

GECCO (Genes encoding complex ciliopathies of bronchiectasis) utilises whole exome sequencing data from >1500 bronchiectasis patients enrolled within EMBARC-BRIDGE to identify unrecognised PCD in patients with bronchiectasis.

The GECCO study will use whole exome sequencing data to identify individuals with DNA mutations in genes which are known to influence the structure and function of cilia.

The study will also utilise high-speed video microscopy and immunofluorescence microscopy to determine if the identified mutations are ‘pathogenic’ i.e., cause a defect in the way the cilia look or function. 

Based on the findings, individuals discovered to have pathogenic mutations will be recalled for further testing to confirm a diagnosis of PCD.