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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)

Learn more about our out-of-state patient services »

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



Broadway Research Building

Appointment Phone: 410-955-3071

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. Garry R. Cutting is a professor of pediatrics at the Johns Hopkins University School of Medicine.  He is the Aetna/U.S. Healthcare Professor of Medical Genetics at Johns Hopkins and is also a faculty member of the McKusick-Nathans Institute of Genetic Medicine. His areas of clinical expertise include cystic fibrosis and medical genetics. 

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. 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. 

After receiving his undergraduate degree in biology from the University of Connecticut, Dr. Cutting earned his medical degree from the University of Connecticut School of Medicine. He completed his residency training in pediatrics and a fellowship in medical genetics at the Johns Hopkins University School of Medicine and has remained at Johns Hopkins for his entire professional career. 

Dr. Cutting is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award from the Cystic Fibrosis Foundation and a MERIT award from the National Institutes of Health. He has published more than 150 peer-reviewed articles. He is director of the postdoctoral clinical genetics fellowship programs, the DNA Diagnostic Laboratory and the Genetic Translational Technology Core at Johns Hopkins. 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.

    CORE Facilities

    Genetics Translational Technology Core

    Selected Publications View all on PubMed

    Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R. "Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity." Hum Mol Genet. 2014 Dec 8. pii: ddu607. [Epub ahead of print]

    Cutting GR. "Cystic fibrosis genetics: from molecular understanding to clinical application." Nat Rev Genet. 2015 Jan;16(1):45-56. doi: 10.1038/nrg3849. Epub 2014 Nov 18.

    Collaco JM, Blackman SM, Raraigh KS, Morrow CB, Cutting GR, Paranjape SM. "Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study." BMC Pulm Med. 2014 Oct 6;14:159. doi: 10.1186/1471-2466-14-159.

    Hampton TH, Green DM, Cutting GR, Morrison HG, Sogin ML, Gifford AH, Stanton BA, O'Toole GA. "The microbiome in pediatric cystic fibrosis patients: the role of shared environment suggests a window of intervention." Microbiome. 2014 Apr 28;2:14. doi: 10.1186/2049-2618-2-14. eCollection 2014.

    Sharma N, Sosnay PR, Ramalho AS, Douville C, Franca A, Gottschalk LB, Park J, Lee M, Vecchio-Pagan B, Raraigh KS, Amaral MD, Karchin R, Cutting GR. "Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions." Hum Mutat. 2014 Oct;35(10):1249-59. doi: 10.1002/humu.22624. Epub 2014 Sep 10.

    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.

    McColley SA, Rosenstein BJ, Cutting GR. Differences in Expression of Cystic Fibrosis in Blacks and Whites. Am J Dis Child (1991), 145:94-97.

    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.

    Beaudet AL, Perciaccante RG, Cutting GR. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy. Am. J. Hum. Genet. (1991) 48:1213.

    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.

    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. Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet (1990), 47:354-359.

    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, 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.

    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, 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.

    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.

  • 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

    Professional Activities

    • Director, CFTR2 project
    • Director, Clinical Genetics Laboratory Training Programs
    • Preceptor, Predoctoral Training Program in Human Genetics
    • Director, DNA Diagnostic Laboratory
    • Director, Genetic Translational Technology Core
  • 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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