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.
Washington University School of Medicine in St. Louis is one of more than 30 genome sequencing hubs worldwide participating in a study to sequence the DNA of young, healthy adults and children who develop severe COVID-19 despite having no underlying medical problems. The researchers also will study people who never become infected despite repeated exposures to coronavirus. Knowledge gained from understanding COVID-19’s extremes could lead to new therapeutic strategies for the illness.