Genetic analysis explains rare disease severity, points to possible treatment

Researchers at Washington University School of Medicine in St. Louis have uncovered why some patients with a rare genetic disorder called primary ciliary dyskinesia have worse lung problems than others with the same disorder. The discovery, published in Science Translational Medicine, suggests that gene therapy to restore a missing protein complex could help treat the disease. Patients with the disorder who are treated at WashU Medicine participated in this research.