|Education||AB, West Virginia University|
|Current Position||Senior Professional Staff|
Johns Hopkins University APL
Cystic Fibrosis (CF) is a chronic disease affecting ~70,000 individuals worldwide. Classic CF patients present with decreased lung function, pancreatic insufficiency, and increased sweat chloride levels at a young age. These phenotypes are due to mutations in CFTR, a chloride channel primarily expressed in secretory epithelia. However, some individuals presenting at CF clinics have less severe symptoms, and are found to lack mutations in CFTR. Little is known about the molecular etiology of these “atypical” CF patients, which represent ~2% of the total CF population. By exome sequencing families and unrelated probands with atypical CF, I hope to determine the disease-causing variants of this unique illness via bioinformatic analysis. By further probing the molecular function of each candidate gene, we will achieve a greater understanding of ion transport pathways in epithelial tissues. This study may also result in more appropriate clinical assessment & treatment of atypical patients, as well as potential therapeutic targets for a variety of ion transport diseases.