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Peter Castaldi

Peter Castaldi

Associate Professor, Harvard Medical School
I am a physician-researcher with a primary interest in using genomic technologies to advance our understanding of the biological basis of COPD with the ultimate goal of developing improved therapies for this debilitating disease. My relevant skills include twenty years of clinical medical practice and training in genetic epidemiology and bioinformatics. I have been Principal Investigator (PI) for multiple previous NIH R01-funded projects, through which I have generated blood RNA-seq data in over 4,000 subjects in the COPDGene Study now available through dbGaP. My group has analyzed these data to identify novel cigarette smoke-induced changes in long non-coding RNA and gene splicing. We have also used integrative genomics methods to identify novel COPD-associated functional variants in ACVR1B, FAM13A, TGFB2, FBXO38, and NPNT. My lab has been among the first groups using long read sequencing to characterize genetically influenced splicing. I have made ongoing contributions to the field of COPD subtypes, focusing on the application of machine learning methods to identify clinical and molecular subtypes of COPD. I am currently PI or MPI of three NIH R01 projects that use integrative genomics to identify COPD association functional variants in lung tissue, airway epithelial culture, and the identification of functional splicing variants using deep learning.
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