Marie E Egan MD
Professor of Pediatrics (Respiratory) and of Cellular and Molecular Physiology; Director, Cystic Fibrosis Center
Cystic fibrosis clinical studies; Cystic fibrosis basic science research (ion transport, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) function); Cystic fibrosis translational research studies (strategies to bypass the basic defect)
Dr. Egan’s primary research interest is to understand the regulation
of ion transport across the airway epithelia in health and disease. Transepithelial
ion transport is responsible for maintaining the airway surface fluid, i.e.
the periciliary fluid layer, which controls mucociliary clearance. Abnormalities
in the ion channels and regulators of these channels can alter mucociliary
clearance, leading to retained secretions, mucus plugging, infection, and
lung destruction, as seen in cystic fibrosis. In CF, it is the abnormal function
of the cystic fibrosis transmembrane conductance regulator (CFTR), a multifunctional
protein encoded by the gene that is affected in cystic fibrosis (CF) that
underlies the abnormal ion transport in affected organs.
The Egan lab uses a variety of electrophysiologic techniques to examine how CFTR expression affects transepithelial ion transport in airway epithelial cells. They have shown that CFTR can modulate other ion channels and, as its name implies, act as a conductance regulator. In addition, they have been very interested in understanding and identifying the mechanism(s) that underlie these interactions; and the lab has been examining proteins related to CFTR with the hopes of identify regions/domains that are common to these proteins and are necessary for these interactions. Lastly, the laboratory is interested in examining how mutations in CFTR affect its ability to function.