Congenital Diaphragmatic Hernia (CDH) affects 1 in ~2,500 live birth, and carries a high mortality rate primarily due to cardiopulmonary failure. Variants in a large number of genes have been identified in CDH patients. We have generated mouse mutants carrying mutations in these genes to test if these variants are causal, and use these mouse models to address CDH mechanisms. Our findings indicate complex gene-specific basis of the disease, suggesting that genetic diagnosis is valuable to link genotype to possible mechanisms, and thereby inform treatment.
