Project description:<p>Primary Ciliary Dyskinesia (PCD) is a genetic defect in airway host-defense, and typically results in chronic infection of the airways. Patients with PCD have chronic lung, sinus and ear infections. This longitudinal study is designed to define the rate of progression of PCD lung function in participants prior to 10 years of age using special lung function tests, which help to track lung impairment and prognosis in other disorders of the airways such as cystic fibrosis. This longitudinal protocol will also systematically track other specific outcomes, including pathogens infecting the airways (assessed by respiratory cultures), and age at onset and progression of airway damage and bronchiectasis [assessed by high-resolution computerized tomography (HRCT) of the chest].</p>
| phs001310 | dbGaP
Project description:Airway microbiota in primary ciliary dyskinesia patients
Project description:CCDC39 is a motile cilia protein associated with primary ciliary dyskinesia. We used single cell RNA sequencing (scRNA-seq) to analyze the changes in cells types and gene expression profile of subjects with variants in CCDC39 compared to healthy individuals
