Four-year-old Joseph Anthony Vena IV died last year of a rare genetic disease that attacks children’s immune systems. The disease and the genetic mutation that causes it were identified by Megan A. Cooper, MD, PhD, an associate professor of pediatrics at Washington University School of Medicine in St. Louis, working with other researchers. Cooper, who also treats patients at St. Louis Children’s Hospital, specializes in diagnosing and treating rare genetic diseases affecting the immune system. The new discoveries have inspired an ongoing collaboration of scientists nationwide.
Scientists discover rare genetic condition that attacks kids’ immune systems (Links to an external site)
