New Insights Into Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is not as well known as muscular dystrophy and cystic fibrosis, but like them it is a life-threatening birth defect, and is just as common. Occurring in one in 3,000 births, CDH causes the guts and liver to protrude through a defective diaphragm and into the chest cavity, where they interfere with the lungs. A new study led by Gabrielle Kardon, Ph.D., associate professor of human genetics at the University of Utah is the first to demonstrate how genetic defects cause a physiological mechanism that gives rise to defects in the diaphragm. She describes her research and how it may lead to new approaches for therapeutic interventions. Learn more.