PCD affects up to 1 million people around the world. PCD is a rare, autosomal recessive multigenic disease involving 50+ casual genes.
Mutation in one or more of these genes results in defects in structure and/or function of the cilia - tiny hairlike projections on the cells that help the body.
Patients with PCD endure lifelong respiratory disease characterized by chronic and debilitating lung, ear and sinus infections leading to permanent damage in these areas. PCD almost always progresses to bronchiatasis with 25% developing respiratory failure.
+45 other genes
Effective treatments for PCD are a critical unmet need.