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Garry R Cutting, M.D.

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


Appointment Phone


Main Location

Broadway Research Building

Out-of-State & International Patients +
Out of State Patients

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

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International Patients

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


  • Pathology
  • Pediatrics - Genetics


Broadway Research Building

Appointment Phone: 410-502-1033

733 N. Broadway
Suite 551
Baltimore, MD 21287 map

The Johns Hopkins Hospital - Main Entrance

Appointment Phone: 410-502-1033

1800 Orleans Street
Baltimore, MD 21287 map


Cystic Fibrosis, Medical Genetics

Research Interests

Cystic fibrosis; Determining CFTR genotype in phenotypes that overlap with cystic fibrosis (atypical CF, chronic sinusitis, male infertility and obstructive lung diseases); Identifying genetic variants that contribute to chronic lung disease by linkage and candidate gene approaches; 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; Structure/function analysis of chloride channels expressed in epithelial tissues and retinal neurons


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. more

    Additional Information

  • Education +


    • University of Connecticut Health Center / MD (1983)


    • American Board of Medical Genetics / Clinical Biochemical Genetics (1990)
    • American Board of Medical Genetics / Clinical Genetics / MD (1990)
    • American Board of Medical Genetics / Clinical Molecular Genetics (1990)
    • American Board of Pediatrics / 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

    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 +


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


    • Faculty Advancement Committee
    • Human Genetics Committee
    • U.S. Cystic Fibrosis Foundation
  • Videos & Media +

    Lectures and Presentations

    Identification of Sequences Conferring Unique Properties to GABAC Receptors Formed of ? Subunits
    Symposium Presentation ,  Ft. Lauderdale
    Association for Research in Vision & Ophthalmology Annual Meeting

    Genetic Aspects of Chronic Sinusitis
    Presentation , Scottsdale
    American Academy of Allergy Asthma & Immunology

    Mutation Analysis in Cystic Fibrosis
    Symposium Presentation , Jerusalem
    XIIth International Cystic Fibrosis Congress

    Implications of the Multiple Functions of CFTR and Therapy for CF and Gene Therapy for Cystic Fibrosis
    Symposium Presentations , Rio de Janeiro
    9th International Congress of Human Genetics

    Consequences of CF Mutation Upon CFTR Functions
    Symposium Presentation , Lyon
    Conferences Philippe Laudat

    Ethnic distribution and phenotypic consequences of CF mutations
    NIH Consensus Conference: Genetic Testing for Cystic Fibrosis

    Molecular composition of GABAC receptors
    Symposium Presentation , Fort Lauderdale
    First Annual Conference in Association with Vision Research: Molecular, Cellular and Genetic Approaches to Function and Dysfunction of the Retina

    “Molecular biology and rhinosinusitis” and “New directions in gene therapy for rhinology”
    Presentations , Philadelphia
    Cottle International Rhinology Centennial Conference

    Functional analysis of ClC-2 chloride channels stably expressed in cystic fibrosis airway cells
    Symposium Presentation , Kansas City
    Annual Meeting Biophysical Society

    Phenotypes Associated with Dysfunction of the Cystic Fibrosis Transmembrane Conductance Regulator
    Conference presentation , Lisbon
    Departamento de Genetica Humana Instituto Nacional de Saude

    Recent News Articles & Media Coverage

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

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