Gene Discovery and Treatment of Primary Ciliary Dyskinesia
Thomas W. Ferkol, M.D.
Center for Pediatric Pulmonary Disease
Interdisciplinary Research Initiative
2/1/2008 - 1/31/2012
Seth Crosby, Susan Dutcher
Primary ciliary dyskinesia is an autosomal recessive genetic disease that results in airway obstruction and chronic infections of the lungs. Dr. Ferkol’s team will use a single cell model organism to comprehensively define genetic abnormalities leading to primary ciliary dyskinesia and develop cell models to screen drugs and determine the clinical potential of specific treatments for such patients.
- Ferkol T, Mitchison H, O¹Callaghan C, Leigh M, Carson J, Lie H, Rosenbluth D, Brody SL. Current issues in the basic mechanisms, pathophysiology, diagnosis, and management of primary ciliary dyskinesia. European Respiratory Monograph. 2006;37:291-313.
- Lie H, Ferkol T. Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Drugs. 2007;67:1883-92.