Primary ciliary dyskinesia (PCD) is a rare genetic disease
Cilia are common structures throughout the body, so PCD may affect other organs, for example leading to situs inversus, congenital heart defects and infertility.
Mutations in 30 different genes have been identified to date, accounting for approximately 60% of PCD.
Cilia that line the mucosal surface are dysfunctional and cannot clear mucus leading to neonatal respiratory distress, persistent daily wet cough, recurrent upper and lower airway infections, bronchiectasis, hearing impairment and persistent rhino-sinusitis.
BEAT-PCD is a network of multidisciplinary researchers and clinicians funded by COST Action (BM1407). The network is coordinating research from basic science to clinical care, with the ultimate goal to improve diagnosis and develop treatments that lead to improvements in long-term outcome of patients with PCD. Read more.