Al Alam, DeniseDanopoulos, Soula Athanasia
Summary
Down Syndrome (DS), often due to Trisomy 21 (T21), is the most prevalent chromosomal abnormality worldwide, [1, 2] resulting in several pulmonary disorders such as pulmonary hypertension and hemosiderosis, both possibly caused by a dysregulated lung endothelium. While endothelial cell defects in T21 have been described, a detailed understanding of lung specific endothelial defects and the mechanisms underlying these anomalies during human lung development remains elusive. A detailed understanding of the role of type I interferon pathway in endothelial cell defects in the human developing lung can lead to the discovery of novel therapeutic targets not only for DS but also other lung diseases where endothelial cells defects are observed, such as pulmonary hypertension and alveolar capillary dysplasia.