Marie E Egan, MD

Professor of Pediatrics (Respiratory) and of Cellular And Molecular Physiology; Director, Cystic Fibrosis Center

Research Interests

Cystic Fibrosis; Lung; Pediatrics; Physiology; Clinical Trial; Cystic Fibrosis Transmembrane Conductance Regulator; Airway Management

Research Organizations

Pediatrics: Respiratory Medicine

Cellular & Molecular Physiology: Epithelial Transport of Ions and Solutes | Membrane Protein Sorting and Trafficking | Membrane Proteins - Ion Channels | Physiology of Human Disease

CPIRT - Pulmonary Infection Research and Treatment

Stem Cells and Tissue Repair

Office of Cooperative Research

Research Summary

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.

Specialized Terms: 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)

Selected Publications

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Contact Info

Marie E Egan, MD
Patient Care Location
Yale Pediatric Respiratory MedicineYale-New Haven Children's Hospital
1 Park Street, Ste West Pavilion - 2nd Floor

New Haven, CT 06504
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Mailing Address
Yale PediatricsPO Box 208064
New Haven, CT 06520-8064