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Garry R Cutting, MD

Aetna/U.S. Healthcare Professor of Medical Genetics
Professor of Pediatrics

See Research on Pubmed | See Research on Google Scholar

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Main Location

Broadway Research Building

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Call 410-464-6641 (8a.m. to 6p.m., EST, Mon-Fri)

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Call +1-410-502-7683 (7a.m. to 6p.m., EST, Mon-Fri)

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  • Aetna/U.S. Healthcare Professor of Medical Genetics
  • Director, Postdoctoral Clinical Genetics Fellowship Programs
  • Preceptor, Predoctoral Training Program in Human Genetics
  • Director, DNA Diagnostic Laboratory
  • Director, Genetic Translational Technology Core
  • Professor of Pediatrics

Centers & Institutes

  • Children's Center
  • Cystic Fibrosis Center
  • McKusick-Nathans Institute of Genetic Medicine


Cystic Fibrosis, Medical Genetics

Research Interests

Structure/function analysis of chloride channels expressed in epithelial tissues and retinal neurons; Determining the biological role of the CFTR protein by identifying mutations in patients with CF characterization of CFTR transcripts and protein from patients of various genotypes and analysis of chloride conduction properties of mutated CFTR expressed in various cell types; Identifying genetic variants that contribute to chronic lung disease by linkage and candidate gene approaches; Determining CFTR genotype in phenotypes that overlap with cystic fibrosis (atypical CF, chronic sinusitis, male infertility and obstructive lung diseases); Cystic fibrosis


Dr. Gary Cutting is a professor of pediatrics and medicine and the Aetna U.S. Healthcare Professor of Medical Genetics in the McKusick-Nathans Institute of Genetic Medicine. He holds bachelor’s and medical degrees from the University of Connecticut.
Dr. Cutting completed a pediatric residency and fellowship in clinical genetics at Johns Hopkins University School of Medicine before joining the faculty in 1989.

Dr. Cutting’s additional appointments include director of postdoctoral training programs in medical genetics, director of the DNA Diagnostic Laboratory for the Johns Hopkins University School of Medicine, and director of the Genetics Translational Technology Core for the Institute for Clinical and Translational Research. He is also the director of the CFTR2 project, a worldwide collection of genotype and phenotype data on over 40,000 patients with cystic fibrosis.

Dr. Cutting is a member of the American Society of Human Genetics, the Association for Research in Vision and Ophthalmology and the American College of Medical Genetics. He is also a committee member of the U.S. Cystic Fibrosis Foundation and serves on the editorial board of Human Mutation, Genetic Testing and Current Molecular Medicine, as well as the Journal of Cystic Fibrosis.
His work has been recognized by The Paul di Sant’Agnese, and he has received the Distinguished Scientific Achievement Award from the CF Foundation, the Merck Clinician Scientist Award and the Linda Ives Award in Basic Sciences Research in Pediatrics.


  • English


  • Human Genetics Committee
  • Faculty Advancement Committee
  • U.S. Cystic Fibrosis Foundation
Additional Resources +
  • Education +


    • University of Connecticut Health Center (Farmington CT ) (1983)


    • Clinical Biochemical Genetics, American Board of Medical Genetics (1990)
    • Clinical Genetics (MD), American Board of Medical Genetics (1990)
    • Clinical Molecular Genetics, American Board of Medical Genetics (1990)
    • Pediatrics, American Board of Pediatrics (1987)
  • Research & Publications +

    Research Summary

    Dr. Cutting’s primary research interest is in the molecular genetics of cystic fibrosis and, more recently, elucidating modifier genes underlying variation in the severity of cystic fibrosis. His recent research uncovered 105 genetic errors that cause cystic fibrosis and the genes that cause cystic fibrosis-related intestinal obstruction in newborns.

    Selected Publications View all on PubMed

    • Cutting GR, Antonarakis SE, Youssoufian H and Kazazian H Jr. The accuracy and limitations of Pulsed Field Gel Electrophoresis in sizing partial deletions of the factor VIII gene. Molecular Biology and Medicine (1988), 5:173-184.
    • Cutting GR, Kazazian H Jr, Antonarakis SE, Killen PD, Yamada Y and Francomano CA. Macrorestriction mapping of human collagen genes COL4A1 and COL4A2 on chromosome 13q34. Genomics (1988), 3:256-263.
    • Jabs EW, Goble CA, Cutting GR. The macromolecular organization of human centromeric region reveals high frequency, polymorphic macro-DNA repeats. Proc Natl Acad Sci (USA) (1989), 86:202-206.
    • Cutting GR, Antonarakis SE, Beutow KH, Kasch LM, Rosenstein BJ, Kazazian H Jr. Analysis of DNA polymorphism haplotypes linked to the Cystic Fibrosis locus in North American Black and Caucasian families support the existence of multiple mutations of the Cystic Fibrosis gene. Am J Hum Genet (1989), 44:307-318.
    • Cutting GR, McGinniss MJ, Kasch LM, Tsipouras P, Antonarakis SE. Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35kb region on chromosome 2. Genomics (1990), 8:407-410.
    • Cutting GR, Kasch LM. Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet (1990), 47:354-359.
    • Cutting GR, Kasch LM, Rosenstein BJ, Tsui L-C, Kazazian H and Antonarakis SE. Two patients with Cystic Fibrosis, nonsense mutations in each Cystic Fibrosis gene, and mild pulmonary disease. New Engl J Med (1990), 323:1685-1689.
    • Cutting GR, Kasch LM, Rosenstein BJ, Zielensky J, Tsui L-C, Antonarakis SE, Kazazian H Jr. A cluster of Cystic Fibrosis mutations in the first nucleotide binding fold domain of the Cystic Fibrosis conductance regulator protein. Nature (1990), 346:366-369.
    • Beaudet AL, Perciaccante RG, Cutting GR. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy. Am. J. Hum. Genet. (1991) 48:1213.
    • Nunes V, Gaona MC, Mana P, Casals T, Cutting GR, Estivill X: Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations. Prenatal Diagnosis (1991) 11:671-672.
    • McColley SA, Rosenstein BJ, Cutting GR. Differences in Expression of Cystic Fibrosis in Blacks and Whites. Am J Dis Child (1991), 145:94-97.
    • Zeitlin PL, Lu L, Hwang TC, Rhim J, Craig R, Cutting GR, Stetten G, Kieffer KA, Guggino WB. A Cystic Fibrosis bronchial epithelial cell line: Immortalization by Adeno-12 SV-40 infection. Am J Resp Cell and Mol Biol (1991), 4:313-319.


  • Academic Affiliations & Courses +

    Courses and Syllabi

    Courses taught: Introduction to Pathobiology, Analytical Methods in Clinical Medicine, Jackson Lab Course, Human Genetics Lecture Series, Advanced Topics in Human Genetics, Molecular Mechanisms, Cellular and Molecular Medicine, Molecules and Cells Course

  • Activities & Honors +


    • Paul di Sant’Agnese Distinguished Scientific Achievement Award, Cystic Fibrosis Foundation
    • MERIT Award, National Institutes of Health
    • Merck Clinician Scientist Award
    • Linda Ives Award, Basic Science Research in Pediatrics

    Professional Activities

    • Preceptor, Predoctoral Training Program in Human Genetics
    • Courses taught: Introduction to Pathobiology, Analytical Methods in Clinical Medicine, Jackson Lab Course, Human Genetics Lecture Series, Advanced Topics in Human Genetics, Molecular Mechanisms, Cellular and Molecular Medicine, Molecules & Cells Course

    Editorial Appointments

    • 1991-present Human Mutation, Communicating Editor
    • 1997-present Genetic Testing, Editorial Board
    • 1998-present Human Mutation, Electronic Editor 
    • 2000-present Current Molecular Medicine, Editorial Board
    • 2007-present Human Mutation, Co-Editor 
    • 2007-present Journal of cystic Fibrosis, Editorial Board
  • Videos & Media +

    Lectures and Presentations

    • Association for Research in Vision & Ophthalmology Annual Meeting, Ft. Lauderdale, FL. Symposium Presentation: “Identification of Sequences Conferring Unique Properties to GABAC Receptors Formed of ρ Subunits”
    • American Academy of Allergy Asthma & Immunology, Scottsdale, AZ. Presentation: “Genetic Aspects of Chronic Sinusitis”
    • XIIth International Cystic Fibrosis Congress, Jerusalem, Israel. Symposium Presentation: “Mutation Analysis in Cystic Fibrosis”
    • 9th International Congress of Human Genetics, Rio de Janeiro, Brazil. Symposium Presentations: “Implications of the Multiple Functions of CFTR and Therapy for CF and Gene Therapy for Cystic Fibrosis”
    • Conferences Philippe Laudat, Lyon, France. Symposium Presentation: “Consequences of CF Mutation Upon CFTR Functions”
    • NIH Consensus Conference: Genetic Testing for Cystic Fibrosis,Bethesda, MD. Presentation: “Ethnic distribution and phenotypic consequences of CF mutations”
    • First Annual Conference in Association with Vision Research: Molecular, Cellular and Genetic Approaches to Function and Dysfunction of the Retina, Fort Lauderdale, Fla. Symposium Presentation: Molecular composition of GABAC receptors
    • Cottle International Rhinology Centennial Conference, Philadelphia, PA. Presentations: “Molecular biology and rhinosinusitis” and “New directions in gene therapy for rhinology”
    • Annual Meeting, Biophysical Society, Kansas City, MO. Symposium Presentation: “Functional analysis of ClC-2 chloride channels stably expressed in cystic fibrosis airway cells”
    • Departamento de Genetica Humana, Instituto Nacional de Saude, Lisbon, Portugal. Conference presentation: “Phenotypes Associated with Dysfunction of the Cystic Fibrosis Transmembrane Conductance Regulator” 

    Recent News Articles & Media Coverage

    Genes Tied to Severity of Cystic Fibrosis Identified,” U.S. News & World Report, May 22, 2011

  • Events +
  • Contact & Locations +


    Broadway Research Building
    733 N. Broadway
    Baltimore, MD 21287
    Appointment Phone: 410-502-1033
    The Johns Hopkins Hospital - Main Entrance
    1800 Orleans Street
    Baltimore, MD 21287
    Appointment Phone: 410-502-1033


    • Pediatrics - Genetics

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