Cutting Lab
Principal Investigator: Garry R Cutting
Institution: Johns Hopkins University (Baltimore, MD)
Primary Subfield: Genetics/Genomics
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
PROJECT SUMMARY How much does function vary in individuals bearing WT genes and what is the level of function when only one WT allele is present? Addressing these questions has taken on new relevance in the field of cystic fibrosis (CF), one of the most common lethal autosomal recessive single gene disorders, due to recent large-scale epidemiologic studies reporting significant excess of CF-like respiratory symptoms in CF carriers. The findings are consistent with prior reports indicating that CF carriers have increased rates of sinus and lung disease, even though other features of CF such as sweat chloride concentration are not abnormal. The medical implications are substantial as there are an estimated 10 million CF carriers in the U.S. and an increasing fraction are being identified during prenatal screening or by direct to consumer testing. As testing moves toward sequencing of the CFTR gene, the detection of hypomorphic variants that reduce CFTR function but do not cause CF creates uncertainty for the individual, family and medical team. Treatment of symptomatic CF carriers with effective drugs that target CFTR, the protein defective in CF is conceivable. Although we know a co…
Active NIH Awards
- 5R01DK044003-36: Molecular Genetics of Cystic Fibrosis (2026)
- 5R01DK044003-35: Molecular Genetics of Cystic Fibrosis (2025)
- 5R01DK044003-34: Molecular Genetics of Cystic Fibrosis (2024)
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