DIAGNOSTIC AND CLINICAL CHARACTERIZATION OF PATIENTS WITH UNUSUAL GENETIC DIS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Patients with defects in mucociliary clearance, including primary ciliary dyskinesia (PCD), variate cystic fibrosis (CF), and pseudohypoaldosteronism (PHA) reflect genetic abnormalities in airway host defense, and result in chronic infection of the airways manifested as chronic otitis media, sinusitis, and bronchitis. As one of four Airway Research Centers (ARC) for the Genetic Disorders of Mucociliary Clearance Consortium, a network of sites created to study rare disease of the airways, we plan to develop a consistent, systematic approach to evaluation of these patients with chronic airways disease, which will yield more precise diagnoses in individual patients, and will be associated with development of better diagnostic techniques, including genetic testing. In this protocol, we expect that the systematic evaluation of these patients and a rigorous cross-sectional and longitudinal comparison of the phenotypes will lead to evidence-based standards of clinical care and identification of novel therapeutic approaches.