Our basic science research follows a Genetic Map-to-Mechanism (M2M) approach to identify and investigate novel genomic loci linked to lung disease susceptibility. We begin with bioinformatic analyses to pinpoint genetic variants associated with reduced lung function or increased COPD risk. These loci are then analyzed for biological relevance using transcriptomic datasets from resources like GTEx and single-cell databases. To uncover the mechanisms underlying disease susceptibility, we employ in vitro, ex vivo, and in vivo model systems to study how these genetic loci regulate lung function. Ultimately, these mechanistic insights guide the development of novel therapeutic strategies for COPD and related lung diseases.
Our translational studies focus on understanding molecular changes in the airway epithelium in response to lung stressors. By collecting nasal and airway epithelial samples, we investigate how exposures—such as combustion cigarette smoke and electronic cigarettes—affect gene expression and cellular pathways. These insights help bridge the gap between genomic discoveries and clinical applications, advancing our understanding of COPD pathogenesis.
We leverage data from national, regional, and local cohorts, including COPDGene, SPIROMICS, Pittsburgh COPD SCCOR, and ENDALI, to identify novel determinants of lung impairment and COPD comorbidities. Our current research focuses on environmental lithium exposure and the impact of e-cigarette use on lung health. By integrating large-scale epidemiologic data with molecular insights, we aim to refine risk assessment, disease prediction, and personalized intervention strategies.