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Congenital diaphragmatic hernia (CDH) is one of the most common structural birth defects, occurring in up to one of every 2,500 live births. Although surgical and medical treatment has advanced significantly, survival rates remain at 50 to 80 percent with significant morbidity. To date little is known of the basic molecular mechanisms that underlie CDH.

In this webinar, Dr. Frances High demonstrates how she used Bionano’s Saphyr system for optical genome mapping to analyze structural variations in a large cohort of patients with CDH and their parents, and how it has led to the identification of critical genes and pathways creating improved understanding of the disorder.