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Upstate pulmonologist awarded $1 million NIH grant to unlock genetic secrets of COPD resistance and vulnerability

Chronic obstructive pulmonary disease (COPD) is a lung disease that impacts over 11 million Americans, resulting in tens of billions of dollars in healthcare costs each year. While it can be triggered by any irritant introduced to the lungs such as air pollution, chemicals, dust, or fumes, smokers are most at risk of developing COPD.

Upstate pulmonologist and assistant professor Auyon Ghosh, MD, MPH, will be using a five-year, $1 million grant from the National Institutes of Health/National Heart, Lung, and Blood Institute to bring together data from multiple studies and more than 60,000 patients. He'll be studying genetic factors that contribute to disease risk, as well as working to discover genetic factors that may protect those at risk from developing COPD. Ghosh hopes this information might be used to better predict risk for COPD and identify new treatments. 

“COPD is a smoking-related disease, but interestingly, only a minority of smokers develop COPD,” said Ghosh. About 40 percent of people who smoke develop COPD.

“The majority of folks who smoke don't get COPD, so what makes them resistant?" he said.

Ghosh theorizes there are genetic variants that help protect against developing COPD. By combining data from 11 different studies providing a pool of over 60,000 patients to study, he plans to apply what’s called a polygenic resilience score (PRS); an estimate of an individual's genetic liability to a trait or disease. 

“This type of PRS framework was used by my mentor for this study, Dr. Stephen Glatt in the Department of Behavioral Sciences and Psychiatry,” said Ghosh. “He and his colleagues used it to study psychiatric diseases like schizophrenia, Alzheimer's disease, and others that have a genetic component.” Ghosh said they were able to evaluate if a person had not only a high genetic risk, but also a high resilience. “The idea is to bring that framework into COPD, which is not something that's been done before.” 

Ghosh can trace his interest in studying COPD back to medical school. “Every medical student goes through Netter's Anatomy and in this textbook there's a description of COPD.” He describes the image of two subtypes of COPD, known as “blue bloater” and “pink puffer”; two very different presentations of chronic lung issues. 

“Why does one person's disease kind of manifest in one way, and another person's disease manifests in the total opposite way? That's my interest; better understanding what we call heterogeneity; the differences under these big umbrella diagnoses. At face value they seem similar, but what are the pieces that make them different? That’s a part of this study.” 

With a better understanding of the biological mechanisms that contribute to resilience, Ghosh hopes to find ways to prevent the painful and costly impacts of COPD. 

“Are there biological processes that can stop the negative effects of smoking or exposure? If there are, then maybe we can leverage those to create treatments for folks who develop COPD.” 

You can read more about Ghosh’s study here: