22q11.2 deletion syndrome (22q11.2DS) is a rare birth defect disorder affecting 1 in 4,000 live births. Approximately 60% of 22q11.2DS patients have congenital heart disease, most commonly cardiac outflow tract (OFT) defects that vary in severity from mild to severe. Approximately half of infants born with OFT defects require surgery to survive.
Bernice Morrow, Ph.D., has received a four-year, $3.1 million grant from the National Institutes of Health to better understand the developmental and genetic explanations for the wide variability in OFT severity. She and her colleagues will analyze whole genome sequences from people with 22q11.2 deletion syndrome, some of whom have OFT and others who don’t. DNA variants identified in this way will then be validated in zebrafish using gene editing.
Dr. Morrow is professor of genetics, of obstetrics & gynecology and women's health, and of pediatrics and the Sidney L. and Miriam K. Olson Chair in Cardiology and director of translational genetics at Einstein. (1R01HL157157-01A1)
Posted on: Tuesday, March 08, 2022