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.
Lab
Lab Website: DNA Diagnostic Lab
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.
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