Researcher Portal Login

Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis

*** Enrollment at all of the GRADS Clinical Centers is now open. If you might be interested in participating in this research project, please visit our contact page. ***


The Alpha-1 Antitrypsin Deficiency (AATD, or Alpha-1) GRADS research project is designed to learn more about the interaction between the microbes in the lung and a human protein called alpha-1 antitrypsin.


Alpha-1 antitrypsin (AAT) is made by the liver, and one of its known jobs is to prevent lung damage from infections and smoking. Its production is controlled genetically. Individuals with a severe deficiency are at risk of emphysema and frequent pulmonary infections. Augmentation therapy is a medication that is given to people with severe deficiency to raise their levels of alpha-1 antitrypsin.


To learn more about AATD, please visit http://www.nhlbi.nih.gov/health/health-topics/topics/aat/


Microbes are organisms (bacteria, funguses, sometimes viruses) that live in many parts of the body like the skin, the guts, or the lung. It is not known whether severe AATD affects the number and types of microbes in the lung. It is also not known whether the microbes in the lungs affect the risk of lung disease in people with severe AATD.


The GRADS project has the following aims:

  • Identify the microbes in the lungs in people with severe or mild alpha-1 antitrypsin deficiency.
  • See if alpha-1 antitrypsin augmentation therapy affects the microbes in the lungs in people with alpha-1 antitrypsin deficiency.
  • See if the types of microbes in the lungs correlate with structural abnormalities of the lungs in alpha-1 antitrypsin deficiency.






Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis