Jennifer Wambach, MD
Research Awards Nationwide Recipient (2014-2016)
Washington University in St. Louis, St. Louis, MO
Funded in partnership with the American Lung Association of the Upper Midwest
Why Does the Same Mutation Cause Lung Disease in Only Some Family Members?
Mutations in the surfactant protein-C gene (SFTPC) can cause severe respiratory distress in newborns, interstitial lung disease in children, and pulmonary fibrosis in adults. In families where multiple members have the same SFTPC mutation, not all of them develop lung disease, the same type of disease, or at the same age. Variation in other genes may determine who develops lung disease and who remains healthy despite the SFTPC mutation. These genes are unknown. We will study several families with SFTPC mutations using genetic sequencing to determine additional genes that may contribute to either prevent or cause lung disease.