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NHLBI Funds ATT Deficiency, Sarcoidosis Studies

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The National Heart, Lung, and Blood Institute will award up to $12 million over three years to fund new efforts to understand the genomic and molecular underpinnings of two potentially related diseases that affect the lungs.

The program will use two RFAs to fund centers and studies that will use genomics and microbiomics to eventually identify potential predictors of Alpha-1 Antitrypsin Deficiency (AAT), which has been associated with risk for chronic obstructive pulmonary disease (COPD), and sarcoidosis.

AAT and sarcoidosis affect adults in their 20s to 40s, and mortality and morbidity in both diseases are driven by pulmonary involvement. Both conditions are in part caused by complex genetic and environmental factors that may lead to dysregulated immune responses. AAT is known to be a recessive genetic condition that affects about one in 3,000 to 5,000 persons in the US.

NHLBI expects to provide $3.6 million over three years to support as many as eight clinical centers that will provide infrastructure, sample needs, and study-wide protocols, and will use the remaining funds to fund a Genomics and Informatics Center (GIC).

The NHBLI Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study will use genomic and microbiomics analyses to identify molecular abnormalities related to patients' clinical characteristics, and to conduct hypothesis-based studies at the GRADS clinical centers. The program aims to create a multidisciplinary team of investigators to use these methods to define the molecular, cellular, and clinical characteristics of AAT-deficient patients and newly-diagnosed sarcoidosis patients.

NHLBI anticipates that these centers and the studies they support will generate new hypotheses and data that will lead to development of targeted new diagnostic and therapeutic applications for both diseases.

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