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Marie Egan, MD

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

Contact Information

Marie Egan, MD

Mailing Address

  • Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine

    PO Box 208064

    New Haven, CT 06520-8064

    United States

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Research Summary

Dr Egan has demonstrated a long-term commitment to her overall goal, which is to elucidate the mechanisms that underlie cystic fibrosis (CF) related lung disease, in order to develop innovative and novel therapies and ultimately lengthen the life of patients with this lethal disorder. Dr. Egan’s primary research interest is to understand the function of CFTR in health and disease in epithelial and immune cells.

Extensive Research Description

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, the laboratory is interested in examining how mutations in CFTR affect its ability to function. Lastly, the epithelium interacts with the airway microenvironment and primary immune cells to propagate disease. Dr. Egan has shown that CFTR functions in primary immune cells and this function is altered in CF contributing to disease.

The Egan lab has worked collaboratively to bring forth innovative platforms that could have great impact on CF patients such as gene editing.

Specialized Terms: Cystic fibrosis clinical studies; Cystic fibrosis basic science research (ion transport, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) function) ion transport; Cystic fibrosis translational research studies (strategies to bypass or correct the basic defect) gene editing, immune response , pediatrics

Coauthors

Research Interests

Bacterial Infections; Cystic Fibrosis; Epithelial Cells; Genetic Code; Immunity, Innate; Inflammation; Lung; Macrophages; Microbiology; Pediatrics; Physiology; Pseudomonas aeruginosa; Clinical Trial; Macrophages, Alveolar; Cystic Fibrosis Transmembrane Conductance Regulator; Peptide Nucleic Acids; Nanoparticles; Adaptive Immunity; Translational Research, Biomedical; Airway Management; Gene Editing

Selected Publications

Clinical Trials

ConditionsStudy Title
Diseases of the Endocrine System; Genetics - Adult; Genetics - PediatricVX-121 Combination Therapy in Subjects With Cystic Fibrosis VX20-121-103
Hepatitis; HIV/AIDS; Immune System; Infectious DiseasesScreening In Anticipation of Future Research
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