Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia

The purpose is to better understand the function of newly identified genes that when mutated cause the disease primary ciliary dyskinesia (PCD), or clinical disorders that share clinical features of PCD. PCD is a rare disease that is caused by defects in the structure or function of cilia that move mucus and inhaled foreign material, including bacteria and viruses, out of the airways. By understanding how the proteins encoded by these genes function and how this function is altered in disease, we may be able to improve the treatments available for PCD and other airway diseases.