Scott E. Kopec, MD
Christian Mueller, PhD
The Alpha-1 Foundation has recognized Scott E. Kopec, MD, and Christian Mueller, PhD, for their work on Alpha-1 diseases.
“We are delighted to honor these doctors who have helped to make the University of Massachusetts a leader in both research and care for the Alpha-1 community,” said Angela McBride, the foundation’s director of community outreach.
Dr. Mueller, associate professor of pediatrics, and Dr. Kopec, associate professor of medicine, received the Shillelagh award—an honor given to leading Alpha-1 researchers and doctors—during the association’s eighth annual Celtic Connection event last month.
Both men praised the foundation for its work and said they are grateful to be recognized as part of an elite group of physicians and researchers that includes Terence R. Flotte, MD, the Celia and Isaac Haidak Professor of Medical Education, executive deputy chancellor, provost and dean of the School of Medicine, who received the research award in 2010.
Alpha-1 Antitrypsin Deficiency is a genetic condition that can cause lung and liver disease and is the most common known genetic risk factor for emphysema. Researchers in the Mueller lab are using CRISPR/Cas9 technology to create an animal model highly susceptible to getting emphysema, like the patients, that will allow researchers to study lung disease. Using a separate animal model, the lab is also researching whether liver transplants or liver cell transplants could be a viable option for patients.
Dr. Kopec sees fewer people with liver disease, but many present with severe emphysema or debilitating COPD, with several on oxygen and some requiring a lung transplant. If patients come to his office early in the disease they might be eligible for replacement fusions that help to restore the Alpha-1 protein, which acts as a protective barrier for the lungs.
Because Alpha-1 is a genetic disease, Kopec strongly encourages the family of his patients to be tested.