Investigate the underlying genetic factors of Chronic Obstructive Pulmonary Disease (COPD). With a cohort of over 10,000 individuals, the COPDGene® Study is one of the largest studies to ever document the unique patterns of progression of COPD, its subtypes, and the epidemiologic, genetic and omic factors involved.

Answer why some smokers will develop COPD and others won’t. Characterize chest CT phenotypes in COPD subjects, including assessment of emphysema, gas trapping and airway wall thickening. Based on these phenotypes, the subtypes of COPD will be used to identify susceptibility genes. This understanding will further permit earlier diagnosis of the disease and lead to the development of treatments to modify progression.

Thirona is one of the research partners for the imaging arm of the study, providing AI-based quantitative CT scan analysis (emphysema quantification, airway measurements).

Our robust algorithms used in COPDGene have been able to differentiate between subcategories of emphysema, identify early evidence of fibrosis, automatically trace the bronchi and pulmonary arteries to assess for morphologic changes, accurately measure air trapping.

COPDGene is one of the largest studies to investigate the underlying genetic factors of COPD. It is a multicenter observational study that has enrolled more than 10,000 smokers with and without COPD across the GOLD stages. The study goal is to characterize smokers with and without COPD to perform epidemiological and genetic studies of these COPD-related phenotypes.

Based on the data provided from the COPDGene Study, it has been recognized that imaging of smoking-related lung disease varies greatly between individuals who may have similar physiologic impairment. These differences can help guide therapy, as those with airway disease predominant COPD may benefit from different treatment options from those with emphysema predominant COPD. While the main components of COPD remain emphysema, bronchitis, and bronchiolitis, the COPDGene Study has also shown that smoking is associated with the presence of previously unsuspected interstitial lung abnormalities (ILA) on CT.

In addition to genetic studies of the presence or absence of COPD, multiple disease-related characteristics have also been studied for genetic associations. For example, more than 1000 genomic regions have been associated with lung function levels. Thus, substantial progress has been made in understanding the genetic risk of COPD, but additional research is required to find more of the key genes in the identified genomic regions and to find new determinants of COPD progression.

Throughout the 17 years of activity COPDGene has already managed to bring novelty into the field, redefine criteria for diagnosis and discovering phenotypic, pathophysiologic and genetic data to identify factors that control and affect the disease progression.