Gene Discovery and Treatment of Primary Ciliary Dyskinesia

Principal Investigator(s):

Thomas W. Ferkol, M.D. - Pediatrics

Status: Completed

Center(s): Center for Pediatric Pulmonary Disease

Award Mechanism: Interdisciplinary Research Initiative

Project Period: 2/1/2008 - 1/31/2012

Total Amount: $200,000

Collaborators: Seth Crosby, Susan Dutcher

Project Summary:
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. 

See Also:
  • 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.