Alpha-1 at MUSC A shared voice for patient empowerment

Allele Search


Understand your Alpha-1 alleles

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Alpha-1 Research Studies at MUSC

Medical research

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Research Studies at MUSC

MUSC Biorepository

Crc fireworks

The goal of the MUSC Biorepository Portal is to identify, stimulate, coordinate and support research for Alpha-1.

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Alpha-1 Coded Testing (ACT) Study

Medical testing

The ACT Study has moved from its current site at the Medical University of South Carolina to the University of Florida.

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What is Alpha-1?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. People who inherit Alpha-1 do not make a protein called alpha-1 antitrypsin (AAT) in the normal way. AAT is made in the liver and circulates in the blood to protect the lungs from damage. The way people make AAT is determined by genes. People who inherit two abnormal copies of the Alpha-1 gene do not have enough AAT in their blood, which makes lung tissue more prone to damage. Lung disease may occur naturally over time and is worsened by environmental exposures such as smoke and pollution. Sometimes, abnormal AAT accumulates in the liver, which causes liver disease.
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