It is already recognised that bronchiectasis can arise as the result of genetic conditions, including Primary Ciliary Dyskinesia (PCD) and primary immunodeficiencies, however many bronchiectasis patients present with disease without a known cause.

With many patients asking ‘why me?’, a key priority in bronchiectasis research is to establish why certain people develop bronchiectasis despite no identifiable cause.

As such, a portion of the research EMBARC conducts aims to explore the genotypes of individuals with bronchiectasis compared to those of the general population to explore the genetic risk factors of bronchiectasis to better understand underlying genetic susceptibility to disease.

The Bronchiectasis Genetics Initiative will also aim to identify if conditions such as PCD and/or immunodeficiencies are under diagnosed in patients with bronchiectasis, and if the presence of genetic mutations in such genes influences disease severity and outcomes.

Thus far, we have sequenced 1500 exomes from patients with bronchiectasis.

EMBARC projects associated with The Bronchiectasis Genetics Initiative: