RARE GENETIC DISORDERS OF THE AIRWAYS: DEVELOPMENT OF NOVEL SCREENING

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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. A consortium of geographically-dispersed clinical research sites has been established by investigators at the University of North Carolina, Chapel Hill, for the purpose of studying rare diseases of the airways, which involve impairment of mucociliary clearance from the airways. In addition to UNC, Chapel Hill, other sites are Washington University, St Louis; University of Colorado, Denver; and University of Washington, Seattle. Investigators at these sites will collaborate in diagnostic, genetic, and other studies in a focused group of patients, including those with the possible diagnosis of primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF), and pseudo- hypoaldosteronism (PHA), reflecting genetic defects in airway host-defense, and typically result in chronic infection of the airways. Patients with these disorders of the conducting airways and sinuses often have delayed or misdiagnoses because of lack of reliable diagnostic tests. Sub-optimal management of their clinical disease is also an issue because the cause of these disorders is not well-defined, and treatment regimens are typically not driven by evidence-based medicine.