Marie Egan, MD

Professor of Pediatrics (Respiratory) and of Cellular And Molecular Physiology; Director, Cystic Fibrosis Center; Vice Chair for Research, Department of Pediatrics

Research Departments & Organizations

Pediatrics: Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine

Cellular & Molecular Physiology

CPIRT - Pulmonary Infection Research and Treatment

Office of Cooperative Research

Research Interests

Adaptive Immunity; Airway Management; Bacterial Infections; Clinical Trial; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Epithelial Cells; Genetic Code; Immunity, Innate; Inflammation; Lung; Macrophages; Macrophages, Alveolar; Microbiology; Pediatrics; Physiology; Pseudomonas aeruginosa

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)

Clinical Trials

Conditions Study Title
Genetics - Adult, Genetics - Pediatric A Study Evaluating the Long Term Safety and Efficacy of VX-659 Combination Therapy
Genetics - Adult, Genetics - Pediatric A Phase 3 Study of VX-659 Combination Therapy in Subjects With Cystic Fibrosis Heterozygous for the F508del Mutation and a Minimal Function Mutation (F/MF)
Diseases of the Lung, Diseases of the Respiratory Systems Standardized Treatment of Pulmonary Exacerbations II (STOP2)
Hepatitis, HIV/AIDS, Immune System, Infectious Diseases Screening In Anticipation of Future Research
Children's Health, Diseases of the Respiratory Systems Microbiome Acquisition and Progression of Inflammation and Airway Disease in Infants and Children With Cystic Fibrosis
Children's Health, Diseases of the Respiratory Systems G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2) (GOAL- e2)

Selected Publications

See list of PubMed publications

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