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NIH R01 · 2025

Type I IFN signaling during lung development in Down Syndrome

Project Summary/Abstract Down syndrome (DS), also referred to as trisomy 21, is the most common human chromosomal anomaly, affecting 1 in 700 live births. Although DS can affect many organ systems, lung and heart disease are the leading causes of morbidity and mortality. Several congenital lung anomalies are reported in individuals with DS including airway branching defects, with a 25% decrease in the number of branches and reduced upper airway muscle tone with dysphagia and/or bronchomalacia. These complications remain constant into adulthood, as opposed to becoming exacerbated, and are hence likely due to developmental insufficiency. While abnormal pulmonary structure and function in…

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