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Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis

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The Sarcoidosis GRADS research project focuses on the immune system, microbes in the lungs, and their relationship with different types of Sarcoidosis.

Sarcoidosis is a chronic disease that mostly affects the lungs but can affect any part of the body. Individuals with sarcoidosis can experience different types of symptoms, different levels of severity, and different clinical courses. Some may have sarcoidosis that is active for many years, and others may have the disease go into remission after only a few years. These factors, along with others, make up what is called the disease phenotype. What determines the clinical course of Sarcoidosis and the different disease phenotypes is not known. The factors that determine how Sarcoidosis will respond to treatment are also not understood.

Immune cells in the blood (white blood cells) are an important part of the immune system. Many changes happen when the immune system is active and responding to danger. These changes include the release of chemical signals by the immune system into the bloodstream to tell other parts of the body that something is wrong. In Sarcoidosis, this response by the immune system causes white blood cells to move out of the blood stream and form clusters of white blood cells that are called granulomas. Granulomas most often are found in the lungs and lymph nodes of individuals with Sarcoidosis.

Microbes are the collection of tiny 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 why some microbes, such as many that are naturally found in the gut, do not seem cause any harm and do not trigger any response by the immune system. In some cases, the same microbes can cause harm if they are found in or are moved to a different part of the body, such as in the blood or in the lung.

GRADS researchers intend to learn how these factors cause different phenotypes of Sarcoidosis. They will explore this by studying the Immune cells and Microbes in people with Sarcoidosis. This would make it easier to predict the severity and progression of Sarcoidosis, which in turn could help doctors treat patients more effectively. The GRADS approach is part of progress towards personalized medicine tailored to each individual's case of Sarcoidosis.

The GRADS study would like to find answers to three major questions:

  • Do individuals with Sarcoidosis have different lung microbes depending on whether they have severe lung damage from Sarcoidosis compared to individuals who do not have severe lung disease from Sarcoidosis?
  • Do individuals with sarcoidosis have different lung microbes depending on whether they are taking medications to treat their Sarcoidosis?
  • Can certain types of lung microbes lead to more severe cases of Sarcoidosis?

To learn more about Sarcoidosis, please visit

Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis