Garry R. Cutting, MD

Professional Titles

• 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
• Director, Medical Genetics Training Program

Primary Academic Title

Professor of Genetic Medicine

Background

Centers and Institutes

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

Recent News Articles and Media Coverage

• Johns Hopkins Researchers Uncover Genes at Fault for Cystic Fibrosis-Related Intestinal Obstruction, Johns Hopkins Medicine (April 23, 2012)

Additional Academic Titles

Professor of Pediatrics

Lab Website

DNA Diagnostic Lab - Lab Website

• Established in 1979, the Johns Hopkins DNA Diagnostic Laboratory is a CLIA and CAP certified; Maryland, New York, and Pennsylvania licensed clinical genetics testing laboratory specializing in rare inherited disorders. Led by renown professor of pediatrics and medical genetics Dr. Garry R. Cutting, the lab offers testing for a range of approximately 50 phenotypes and disorders totaling 3,500 tests annually.

Research Summary

Dr. Cutting’s primary interests lie in the interpretation of DNA variation and their effect upon human phenotypes.  Dr. Cutting’s lab focuses on the effect of common and rare variants in the CFTR gene that cause the single gene disorder cystic fibrosis (CF).  His lab operates the CFTR2 database, a resource composed of clinical and genetic data on almost 90,000 individuals with CF world-wide.  His laboratory also studies the effect of clinically approved and novel modulators upon CFTR protein bearing disease-causing variants.  Dr. Cutting’s laboratory is also leader in the identification and characterization of genetic modifiers of cystic fibrosis.  His group is currently collaborating with teams at the University of North Carolina and the University of Washington, Seattle to identify common and rare modifier variants of disease severity by whole genome sequencing of 5200 individuals with CF.  Dr. Cutting participates in the clinical translation of variant interpretation as the Medical Director of the DNA Diagnostic Laboratory at Johns Hopkins.  Finally, as Editor of the journal Human Mutation Dr. Cutting oversees the review and publication of manuscripts reporting the mechanism, distribution and phenotype consequences of variation in our genomes.

Google Scholar

https://scholar.google.com/scholar?hl=en&q=Cutting+GR&btnG=&as_sdt=1%2C21&as_sdtp=

PubMed

http://www.ncbi.nlm.nih.gov/pubmed/?term=Garry+R+Cutting

Selected Publications

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

• 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.

• 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, 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, 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.

• 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, 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, 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. “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.

• 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.

• 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.

• 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]

• 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.

• 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.

Courses & 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

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
• Electee, Association of American Physicians, 1/1/17

Lectures & Presentations

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

Memberships

• Faculty Advancement Committee
• Human Genetics Committee
• U.S. Cystic Fibrosis Foundation

Professional Activities

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