![]() ![]() Silverman co-leads the COPDGene study with Dr. ![]() Importantly, one-third of the subjects enrolled in COPDGene are African Americans, who have been understudied in COPD research. Funded by the NIH, the Genetic Epidemiology of COPD (COPDGene) project enrolled more than 10,000 subjects. The results suggested that genetic determinants likely interact with smoking to increase COPD risk.Ī subsequent large-scale study launched in 2007 aimed to understand the genetic determinants, disease heterogeneity, and disease progression of COPD. However, nonsmokers in those families had no increased risk for COPD. The results of this study ultimately demonstrated that COPD clustered in families smokers within those families had increased COPD risk compared to smokers in the general population. His curiosity led him throughout New England, enrolling patients and their family members in the Boston Early-Onset COPD Study, to uncover new genetic causes of COPD. Silverman encountered several patients with severe COPD at a very young age. Silverman’s dedicated research in the topic of COPD genetics, which began with the Boston Early-Onset COPD Study.Įarly in his career, during his pulmonary fellowship at Brigham and Women’s Hospital, Dr. This latest published work reflects a culmination of twenty-five years of Dr. ![]() The Culmination of COPD Genetics Research These findings support a role for early life events influencing lung growth and development that ultimately affect the risk of COPD. The team also noted overlapping loci for COPD with asthma and pulmonary fibrosis, increasing the number of overlaps for fibrosis and finding the first genome-wide evidence for specific regions shared with asthma. The team identified candidate target genes, genetic pathways and potential drug targets.The team observed that the most significant enrichment was found in lung tissue, including endothelial cells and alveolar cells, but the team also noted enrichment in smooth muscle. Specific tissues and cell types were enriched for genetic variants of COPD.Further work to identify the key genetic variants within regions of genetic association and the genes that they influence is ongoing. 82 genetic locations (loci) were significantly associated with risk of COPD.“It’s one of the best aspects of my job to be able to train and interact with the next generation of physician-scientists.” Key Research Findings When asked about the most rewarding facet of research, he cited the connections forged by mentorship. “Our goal is to use imaging, clinical characterization, and molecular assessments to come up with new insights into the biological mechanisms for COPD,” said Dr. The genome-wide association study (GWAS) examined data from 257,811 individuals from 25 studies, including from the International COPD Genetics Consortium and UK Biobank. This work expands upon the medical community’s notion of what COPD is. Michael Cho and Phuwanat Sakornsakolpat, and was published in Nature Genetics earlier this year. This study was led by investigators at the CDNM trained by Dr. Recent research leveraged the International COPD Genetics Consortium, which Dr. Silverman, chief of the Channing Division of Network Medicine (CDNM) and pulmonologist at Brigham and Women’s Hospital, envisions that diagnosing patients with complex diseases like COPD based on underlying biological mechanisms, rather than the current approach of relying on physiological and pathological abnormalities, can lead to new and more effective treatments. His team, which includes leading researchers such as Craig Hersh, MD, MPH Dawn DeMeo, MD, MPH Michael Cho, MD, MPH Peter Castaldi, MD and Xiaobo Zhou, PhD, generated findings that could have profound implications for the future of COPD treatment.ĭr. Edwin Silverman, MD, PhD, is a pioneer in studying how genetics impact COPD risk. ![]()
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