Marie Egan, MD
Professor of Pediatrics (Respiratory) and of Cellular And Molecular PhysiologyCards
About
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 Research Interests
Publications
2025
Prevalence of Food Allergy in Children with Cystic Fibrosis
Nguyen H, Whittington K, McCollum S, Shabanova V, Polk B, Lee T, Bruscia E, Egan M, Leeds S. Prevalence of Food Allergy in Children with Cystic Fibrosis. Journal Of Allergy And Clinical Immunology 2025, 155: ab41. DOI: 10.1016/j.jaci.2024.12.132.Peer-Reviewed Original Research
2024
Ezrin drives adaptation of monocytes to the inflamed lung microenvironment
Gudneppanavar R, Di Pietro C, H Öz H, Zhang P, Cheng E, Huang P, Tebaldi T, Biancon G, Halene S, Hoppe A, Kim C, Gonzalez A, Krause D, Egan M, Gupta N, Murray T, Bruscia E. Ezrin drives adaptation of monocytes to the inflamed lung microenvironment. Cell Death & Disease 2024, 15: 864. PMID: 39613751, PMCID: PMC11607083, DOI: 10.1038/s41419-024-07255-8.Peer-Reviewed Original ResearchConceptsActivation of focal adhesion kinaseExtracellular matrixActin-binding proteinsFocal adhesion kinaseLung extracellular matrixKnock-out mouse modelProtein kinase signalingCortical cytoskeletonLoss of ezrinKinase signalingPlasma membraneCell migrationSignaling pathwayEzrinResponse to lipopolysaccharideTissue-resident macrophagesMouse modelLipopolysaccharideCytoskeletonEzrin expressionLung microenvironmentKinaseMonocyte recruitmentProteinAktCCR2+ 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, 117: qiae218. PMID: 39365279, DOI: 10.1093/jleuko/qiae218.Peer-Reviewed Original ResearchLung 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, 24: 142-148. PMID: 39107154, PMCID: PMC11788067, DOI: 10.1016/j.jcf.2024.07.009.Peer-Reviewed Original ResearchCystic 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 ResearchConceptsPoly(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-life
Clinical Trials
Current Trials
Screening In Anticipation of Future Research
HIC ID2000021443RoleSub InvestigatorPrimary Completion Date12/31/2022Recruiting ParticipantsGenderBothAge2 years - 17 years
Academic Achievements & Community Involvement
Clinical Care
Overview
Marie Egan, MD, specializes in pediatric pulmonology, with a focus on treating children with cystic fibrosis (CF) and related respiratory conditions. She is dedicated to improving the lives of young patients by addressing issues such as mucus clearance, infection management, and lung function preservation.
Dr. Egan's interest in cystic fibrosis began at age 18 when she volunteered in a playroom for sick children at the Children's Hospital of Philadelphia. "They were free and open when talking to each other,” she recalls. “They talked about who had died, who was still living, and who had been hospitalized. But the moment adults or parents came in, their tone would totally change. They were talking like little kids again. I don’t think anyone should have to be that brave at that age."
The experience inspired her to pursue a career that combined her love for science with a desire to help children maintain their innocence despite their illnesses.
As a professor of pediatrics (respiratory) and of cellular and molecular physiology at Yale School of Medicine, Dr. Egan studies how ion channels—tiny pathways that allow ions to move in and out of cells—can disrupt the body's ability to clear mucus from the lungs. This can lead to breathing difficulties, infections and lung damage in diseases like cystic fibrosis. Her lab studies how the CFTR protein, which is faulty in cystic fibrosis, influences these ion channels and affects lung health. Dr. Egan is also working with colleagues on a gene editing project to fix the genetic mutations in the CFTR gene that cause cystic fibrosis, with the hope of developing new treatments.
Dr. Egan takes pride in the impact she has had on her patients and the field of cystic fibrosis research. "I’m proud of the fact that so many patients tell me I’ve made a difference in their lives," she says. “It’s an incredible honor and privilege to help people navigate chronic illness and disease.”
Dr. Egan received her medical degree from Mount Sinai School of Medicine and completed her internship and residency in pediatrics at the Johns Hopkins Hospital. She also completed a fellowship in pediatric pulmonary medicine at the Eudowood Division of Pediatric Respiratory Sciences at Johns Hopkins Hospital.
Clinical Specialties
Fact Sheets
Cystic Fibrosis in Children
Learn More on Yale MedicinePneumonia
Learn More on Yale MedicineAsthma
Learn More on Yale MedicinePediatric Respiratory Failure
Learn More on Yale Medicine
Yale Medicine News
News & Links
News
- February 06, 2025
Rare Disease Celebration: Feb. 21
- May 02, 2024
56 Yale Pediatricians Recognized by Connecticut Magazine's 2024 “Top Doctors” List
- March 20, 2024
The power of collaboration
- May 22, 2023
Jumping into the deep end
Get In Touch
Contacts
Pediatric Pulmonology, Allergy, Immunology & Sleep Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
Locations
Patient Care Locations
Are You a Patient? View this doctor's clinical profile on the Yale Medicine website for information about the services we offer and making an appointment.