Benjamin Raby, MD, CM
Benjamin Raby, MD, MPH is a pulmonologist and genetic epidemiologist with an interest in the genetics of lung disease. He is the Director of the BWH Pulmonary Genetics Center, a first-of-its kind clinical and research center that serves patients with suspected genetic pulmonary disorders. His research focuses primarily on identifying the molecular determinants of asthma in human populations. He has developed four NIH-funded studies that use genome-wide approaches. “Genetics and Gene Expression Profiling in Asthma” aims to identify asthma-associated regulatory genetic variants. He has developed gene expression signatures for asthma-associated traits and methods to facilitate expression quantitative trait locus mapping studies. These efforts resulted in identification of regulatory variants that influence the expression of 1,585 genes, including novel asthma susceptibility variants, and have developed a pipeline to functionally characterize the identified asthma genes. The second project, “The Asthma BioRepository for Integrative Genomics Research”, is a nation-wide effort to establish a publicly accessible repository of cell lines from 1,500 asthmatic and healthy subjects, accompanied by genome-wide genotype, gene expression and methylation profiles for all 1,500 subjects to facilitate integrative, systems-based approaches for the study of asthma and other traits. The third project, “Structural Genetic Variation in Asthma”, is supporting a genome-wide association study of copy number variation (CNVs) in asthma. The fourth, "Integrative Genomics of Acute Asthma Control" focuses on leveraging clinical, genomic and environmental data to understand the molecular determinants of suboptimal asthma control. I am also a founding member of the EVE Asthma Consortium, and collaborate on a variety of asthma and COPD projects.