Abstract: Role of Genetic Variations at HHIP and FAM13A Loci in Chronic Obstructive Pulmonary Disease (COPD) Susceptibility

Chronic Obstructive Pulmonary Disease (COPD) is a chronic inflammatory lung condition which causes obstructed airflow from the lungs. Its primary causes are cigarette smoke and air pollution. COPD has been the third-leading cause of death in the United States in recent years but a major research problem has been the lack of targets for treatments. In order to develop treatments, the pathogenesis of COPD must be understood at a molecular and genetic level. Recent Genome-Wide Association Studies (GWAS) and high-throughput screening of functional variants have shown that variations at HHIP and FAM13A loci contribute to COPD. While there is extensive evidence that these loci increase COPD susceptibility, the exact mechanisms by which they do so is not clearly understood. This summer, I will work specifically with transgenic murine models exhibiting HHIP and FAM13A variations to understand the genetic pathways that contribute to COPD. I will be working at the Channing Division of Medicine at Brigham and Women’s Hospital, Harvard Medical School.