Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect ciliary function and cause primary ciliary dyskinesia (PCD), which results in life-shortening lung disease. The long-term goal of this project is to develop better understanding of the underlying genetic variability that adversely modifies ciliary function, and predisposes to common airway diseases, such as asthma and chronic obstructive pulmonary disease.
• Patients who have a high suspicion for the diagnosis of PCD, based on clinical features
⁃ Healthy Volunteers who have a family member with confirmed PCD.