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Peter Castaldi, MD

Research Areas: COPD, genomics, transcriptomics, alternative splicing, machine learning, COPD subtypes, functional genomics

Peter Castaldi is a physician-scientist and Associate Professor of Medicine in the Channing Division of Network Medicine in the Department of Medicine at Brigham and Women’s Hospital, and his work is relates to the generation and analysis of ‘omics data in large human study samples. He started his career in genetic association studies and GWAS for COPD, then in the process of following up the functional consequences of GWAS hits he transitioned into high throughput studies of gene regulation and integrative genomics, leading to the identification and functional confirmation of FAM13A and TGFB2 as COPD GWAS genes. The current focus of his integrative genomics work is on the role of alternative splicing in COPD. The other branch of his research is identifying subtypes of COPD, which involves the application of machine learning methods to clinical and ‘omics datasets. He is a past co-leader of the COPD Subtyping working group in the International COPD Genetics Network (ICGN) and current co-leader of the COPDGene Subtyping Working Group. In collaborative work with the ICGN, Dr. Castaldi demonstrated that COPD subtypes identified through clustering algorithms often have low reproducibility, and that continuous representations from dimension reduction methods are more reproducible. His current work in COPD subtyping is focused on applying dimension reduction and improved clustering methods to clinical and ‘omics data to better characterize the link between the various clinical manifestations of COPD and their pathogenic mechanisms. More information on his research is available at

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