Mayo Clinic Advances Research into Alpha-1-Antitrypsin Deficiency, Offering New Hope for Patients
ROCHESTER, MINN. – Mayo Clinic researchers are actively pursuing multiple avenues of inquiry into alpha-1-antitrypsin deficiency (AATD), a genetic disorder that can cause both lung and liver disease, with ongoing studies focused on improved screening, treatments, and transplant advancements. This sustained research effort aims to enhance prevention, diagnosis, and ultimately, the lives of individuals affected by this often-underdiagnosed condition.
AATD impacts an estimated 1 in 2,500 to 1 in 5,000 individuals worldwide. Without early detection and intervention, AATD can lead to severe lung complications like emphysema and chronic obstructive pulmonary disease (COPD), as well as liver cirrhosis and, in some cases, liver cancer. the mayo Clinic’s thorough approach to AATD research seeks to address these challenges through a multi-disciplinary strategy.
Several departments and centers within Mayo Clinic are dedicated to unraveling the complexities of AATD. The Artificial Liver and Liver Transplantation program is exploring innovative therapies, while the Center for Individualized Medicine focuses on tailoring treatments based on a patient’s unique genetic makeup. The Genetics of Liver Disease lab investigates the underlying genetic factors contributing to the condition. Additionally, the Transplant Research Center is working to refine surgical procedures and develop new antirejection medications to improve transplant outcomes for AATD patients.
Researchers within the Department of Clinical Genomics-Research study a broad spectrum of genetically-based diseases,including AATD,to improve prevention,diagnosis,and treatment strategies. Concurrently, the Transplant Research Center is actively engaged in making transplants safer and more accessible through research into improved surgical techniques and novel antirejection therapies. Further investigation into the genetic causes of lung cancer, and improved early detection methods, is being conducted by scientists in the Epidemiology and Genetics of Lung Cancer Research Program, recognizing the increased risk of lung cancer in individuals with AATD who have never smoked.
Patients and physicians can access a comprehensive list of publications authored by Mayo Clinic doctors on AATD through PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=(%22alpha+1-Antitrypsin%22%5bMesh%5d+OR+%22alpha+1-Antitrypsin+Deficiency%22%5bMesh%5d+OR+(alpha+1+antitrypsin+deficiency)+AND+mayo+clinic%5bad%5d+AND+mayo+clinic%5bad%5d).
as of September 12,2025,Mayo Clinic continues to offer opportunities for patient participation in relevant clinical trials.
