David McCulley, MD (Assistant Professor, Division of Neonatology & Newborn Nursery), received his first R01 award from the National Institutes of Health National Heart, Lung, and Blood Institute for his project, “Genetic and Developmental Mechanisms of Congenital Diaphragmatic Hernia.” Congenital diaphragmatic hernia (CDH) is a common but severe birth defect with a mortality rate of 20 to 50 percent. Children with CDH have abnormally developed lungs and pulmonary vasculature, which results in lung hypoplasia and pulmonary hypertension for which there are no specific treatments.
In this five-year, $1,957,436 project, Dr. McCulley will collaborate with co-investigators from UW-Madison (Naomi Chesler, PhD, of the Department of Biomedical Engineering, and Timothy Hacker, PhD, of the Department of Medicine’s Cardiovascular Physiology Core Facility) and Columbia University (Wendy Chung, MD, PhD, and Yufeng Shen, PhD). The team will identify the genetic and developmental mechanisms causing CDH-associated lung hypoplasia and pulmonary hypertension, and determine the physiological impact of two loss-of-function genetic mutations found in patients with CDH.