Marie Egan, MD
Professor of Pediatrics (Respiratory) and of Cellular And Molecular PhysiologyCards
Appointments
Additional Titles
Director, Cystic Fibrosis Center
Vice Chair for Research, Department of Pediatrics
Contact Info
Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
Appointments
Additional Titles
Director, Cystic Fibrosis Center
Vice Chair for Research, Department of Pediatrics
Contact Info
Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
Appointments
Additional Titles
Director, Cystic Fibrosis Center
Vice Chair for Research, Department of Pediatrics
Contact Info
Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
About
Titles
Professor of Pediatrics (Respiratory) and of Cellular And Molecular Physiology
Director, Cystic Fibrosis Center; Vice Chair for Research, Department of Pediatrics
Appointments
Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
Interim Section ChiefDualPediatric Pulmonology, Allergy, Immunology & Sleep Medicine
ProfessorPrimaryCellular & Molecular Physiology
ProfessorSecondary
Other Departments & Organizations
- Cellular & Molecular Physiology
- CPIRT - Center for Pulmonary Injury, Inflammation, Repair and Therapeutics
- Graduate Program in Cellular and Molecular Physiology
- Molecular Medicine, Pharmacology, and Physiology
- Pediatric Asthma Program
- Pediatric Cystic Fibrosis Program
- Pediatric Faculty Development Group
- Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
- Pediatrics
- Program in Translational Biomedicine (PTB)
- Yale Combined Program in the Biological and Biomedical Sciences (BBS)
- Yale Medicine
- Yale Ventures
Education & Training
- Fellow
- The Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins Hospital (1992)
- Resident
- Johns Hopkins Hospital (1989)
- Intern
- The Johns Hopkins Hospital (1987)
- MD
- Mount Sinai School of Medicine (1986)
Research
Overview
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
Medical Subject Headings (MeSH)
Research at a Glance
Yale Co-Authors
Publications Timeline
Research Interests
Emanuela Bruscia, PhD
Diane Krause, MD, PhD
John Geibel, DSc, MD, AGAF, MS, FRS
Thomas Murray, MD, PhD
Alannah Garrison
Christina Barone
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Epithelial Cells
Lung
Nanoparticles
Inflammation
Publications
2024
CCR2+ monocytes are dispensable to resolve acute pulmonary Pseudomonas aeruginosa infections in WT and Cystic Fibrosis mice
Öz H, Braga C, Gudneppanavar R, Di Pietro C, Huang P, Zhang P, Krause D, Egan M, Murray T, Bruscia E. CCR2+ monocytes are dispensable to resolve acute pulmonary Pseudomonas aeruginosa infections in WT and Cystic Fibrosis mice. Journal Of Leukocyte Biology 2024, qiae218. PMID: 39365279, DOI: 10.1093/jleuko/qiae218.Peer-Reviewed Original ResearchConceptsLung tissue damageCystic fibrosisTissue damageMonocyte recruitmentImmune responsePulmonary Pseudomonas aeruginosa infectionHyper-inflammatory immune responseCystic fibrosis micePropagate tissue damagePseudomonas aeruginosaLungs of patientsChronic neutrophilic inflammationImmunological response to infectionHost immune responseMonocyte-derived macrophagesTarget monocyte recruitmentSite of injuryResponse to infectionCFTR modulatorsPA infectionChronic inflammatory disease conditionsReduced bactericidal activityAdjunctive therapyClinical outcomesEradicate infection285 Development of an electrochemiluminescence CFTR immunoassay
Browne J, Lee J, Peterec K, Garrison A, Bruscia E, Saltzman W, Egan M. 285 Development of an electrochemiluminescence CFTR immunoassay. Journal Of Cystic Fibrosis 2024, 23: s152. DOI: 10.1016/s1569-1993(24)01125-1.Peer-Reviewed Original Research395 Altered hematopoiesis and functional decline of hematopoietic stem cells in cystic fibrosis mice
Braga C, Mancuso R, Thompson E, Oez H, Gudneppannavar R, Zhang P, Huang P, Egan M, Murray T, Krause D, Bruscia E. 395 Altered hematopoiesis and functional decline of hematopoietic stem cells in cystic fibrosis mice. Journal Of Cystic Fibrosis 2024, 23: s207-s208. DOI: 10.1016/s1569-1993(24)01235-9.Peer-Reviewed Original Research264 Poly(amine-co-ester) nanoparticle delivery of CFTR mRNA shows restoration of CFTR activity in cystic fibrosis airway models
Garrison A, Lee J, Browne J, Akhtar L, Peterec K, Suberi A, Eaton D, Ene M, Zhang X, Whang C, Oez H, Kizilirmak T, Bruscia E, Piotrowski-Daspit A, Saltzman W, Egan M. 264 Poly(amine-co-ester) nanoparticle delivery of CFTR mRNA shows restoration of CFTR activity in cystic fibrosis airway models. Journal Of Cystic Fibrosis 2024, 23: s140-s141. DOI: 10.1016/s1569-1993(24)01104-4.Peer-Reviewed Original Research256 Primary mouse tracheal basal cells transplanted into CFTR−/− mice reconstitute CFTR function
Chen K, Berical A, Oez H, Braga C, Garrison A, Gudneppanavar R, Egan M, Kotton D, Bruscia E, Hawkins F. 256 Primary mouse tracheal basal cells transplanted into CFTR−/− mice reconstitute CFTR function. Journal Of Cystic Fibrosis 2024, 23: s136. DOI: 10.1016/s1569-1993(24)01096-8.Peer-Reviewed Original Research219 CFTR dysfunction shapes airway immune cell compositions contributing to lung pathogenesis in children with cystic fibrosis
Kizilirmak T, Yin H, Garrison A, Browne J, Bruscia E, Egan M, Britto C. 219 CFTR dysfunction shapes airway immune cell compositions contributing to lung pathogenesis in children with cystic fibrosis. Journal Of Cystic Fibrosis 2024, 23: s119. DOI: 10.1016/s1569-1993(24)01059-2.Peer-Reviewed Original ResearchNext generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation
Gupta A, Barone C, Quijano E, Piotrowski-Daspit A, Perera J, Riccardi A, Jamali H, Turchick A, Zao W, Saltzman W, Glazer P, Egan M. Next generation triplex-forming PNAs for site-specific genome editing of the F508del CFTR mutation. Journal Of Cystic Fibrosis 2024 PMID: 39107154, DOI: 10.1016/j.jcf.2024.07.009.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulatorCystic fibrosis transmembrane conductance regulator geneF508del-CFTR mutationPeptide nucleic acidCFBE cellsBronchial epithelial cellsCystic fibrosisTriplex-forming peptide nucleic acidsDonor DNACFTR mutationsEpithelial cellsCFTR functionMutations associated with genetic diseasesPrimary nasal epithelial cellsAnalysis of genomic DNAGenetic diseasesIncreased CFTR functionDevelopment of peptide nucleic acidsImprove CFTR functionTransmembrane conductance regulatorAutosomal recessive genetic diseaseNasal epithelial cellsAir-liquid interfaceCystic fibrosis bronchial epithelial cellsHuman bronchial epithelial cellsEnhancing in vivo cell and tissue targeting by modulation of polymer nanoparticles and macrophage decoys
Piotrowski-Daspit A, Bracaglia L, Eaton D, Richfield O, Binns T, Albert C, Gould J, Mortlock R, Egan M, Pober J, Saltzman W. Enhancing in vivo cell and tissue targeting by modulation of polymer nanoparticles and macrophage decoys. Nature Communications 2024, 15: 4247. PMID: 38762483, PMCID: PMC11102454, DOI: 10.1038/s41467-024-48442-7.Peer-Reviewed Original ResearchAltmetricMeSH Keywords and ConceptsConceptsPoly(amine-co-esterPolymer nanoparticlesDelivery of nucleic acid therapeuticsCell-type tropismTissue tropismNucleic acid delivery vehiclesIn vivo deliveryIn vivo efficacyCirculation half-lifeNucleic acid therapeuticsVehicle characteristicsTunable propertiesBiodistribution assessmentPhysiological fatePolymer chemistrySurface propertiesPharmacokinetic modelTissue targetingNanoparticlesDistribution modifiersPolymeric nanoparticlesTropismPolymerDelivery vehiclesHalf-lifeUnderstanding Impact of CFTR Dysfunction on Airway Immune Cell Composition in Early Lung Disease Pathogenesis
Kockar Kizilirmak T, Yin H, Garrison A, Bruscia E, Egan M, Britto-Leon C. Understanding Impact of CFTR Dysfunction on Airway Immune Cell Composition in Early Lung Disease Pathogenesis. 2024, a6357-a6357. DOI: 10.1164/ajrccm-conference.2024.209.1_meetingabstracts.a6357.Peer-Reviewed Original ResearchDe-labeling of Food Allergy in Electronic Medical Records for Cystic Fibrosis Patients to Avoid Unnecessary Food Restriction
Nguyen H, Bruscia E, Young J, Egan M, Leeds S. De-labeling of Food Allergy in Electronic Medical Records for Cystic Fibrosis Patients to Avoid Unnecessary Food Restriction. Journal Of Allergy And Clinical Immunology 2024, 153: ab114. DOI: 10.1016/j.jaci.2023.11.376.Peer-Reviewed Original Research
Clinical Trials
Current Trials
VX-121 Combination Therapy in Subjects With Cystic Fibrosis VX20-121-103
HIC ID2000030926RolePrincipal InvestigatorPrimary Completion Date07/31/2023Recruiting ParticipantsGenderBothAge12+ yearsScreening In Anticipation of Future Research
HIC ID2000021443RoleSub InvestigatorPrimary Completion Date12/31/2022Recruiting ParticipantsGenderBothAge2 years - 17 years
Academic Achievements & Community Involvement
activity The Charles Hood Child Health Research Committee
Peer Review Groups and Grant Study SectionsReviewerDetails2010 - Presentactivity NIH
Public ServiceMemberDetails2008 - Presenthonor Hartwell Individual Biomedical Research Award
National AwardHartwell FoundationDetails04/01/2011United Stateshonor Society of Pediatric Research, Membership Secretary
UnknownDetails01/01/2004United Stateshonor Society of Distinguished Teachers
UnknownYale University School of MedicineDetails01/01/2002United States
Clinical Care
Overview
Clinical Specialties
Fact Sheets
Cystic Fibrosis in Children
Learn More on Yale MedicinePediatric Respiratory Failure
Learn More on Yale MedicinePediatric Obstructive Sleep Apnea
Learn More on Yale MedicinePneumonia
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Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
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