Science Discoveries

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. - 09-25-2012

Primary ciliary dyskinesia (PCD) is an inherited disease affecting the structure and/or function of cilia (tiny, hairlike projections that line the airways, ears, sinuses and some other structures) resulting in frequent infections of these structures. Without prompt diagnosis and treatment, people with PCD may suffer permanent damage to their lungs, ears, and sinuses.

Results from this study provided evidence that genetic testing can be helpful in diagnosis of Primary Ciliary Dyskinesia in a subgroup of patients with normal ciliary ultrastructure, resulting in earlier treatment.

CTSA Support

CTSA support included Clinical and Translational Research Center study visits and reduced cost of lab tests.