I am a pulmonologist and genome scientist with two long-term research interests: applying population-based integrative genomic techniques to the study of asthma; and developing translational genomic applications for the care of patients with lung disease. My asthma research program has focused on identifying and functionally characterizing asthma-susceptibility loci using large, population samples with detailed phenotypic, genetic and genomic measures. Using a variety of computational approaches, including family-based genome-wide association, eQTL mapping, and Gaussian Graphical Models, my research team has contributed to the identification or replication of multiple asthma susceptibility loci. To further advance the use of integrative genomics in asthma research, my group also led the development of the Asthma BioRepository for Integrative Genomic Exploration (Asthma BRIDGE), a publicly accessible biorepository of cell lines and dense integrative genomic data from 1,500 asthmatics, that is currently being used by multiple asthma research groups across the U.S.
To advance the use of molecular approaches in the practice of pulmonary medicine, I established the Brigham and Women’s Hospital Pulmonary Genetics Center, a unique clinical and research entity dedicated to the care and scientific investigation of patients with monogenic lung disease. The center currently supports two translational research projects aimed at improving the care of patients with Idiopathic Pulmonary Fibrosis and Primary Ciliary Dyskinesia. I also assisted in the development of the PulmoGene Sequencing Panel – a next-generation sequencing assay that surveys 57 highly penetrant genes from 20 genetic lung diseases. The panels are now being used in the routine clinical care of our patients.