NIH R01 · 2025
Molecular Genetics of Cystic Fibrosis
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…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.