Researchers solve medical mystery of deadly illness in young child (Links to an external site)
New research from Washington University School of Medicine in St. Louis has solved the medical mystery of why a 2-year-old child — seemingly healthy at birth — succumbed to an undiagnosed, rare illness. On the left is normal lung tissue showing air sacs with thin cell layers for the exchange of oxygen and carbon dioxide. On the right is the patient’s lung tissue. Because of a mutation in the RAB5B gene, the walls of the air sacs are thick and unable to participate in gas transfer.
Washington University joins network for solving rare medical mysteries (Links to an external site)
F. Sessions Cole, MD, will lead the Washington University School of Medicine clinical site at St. Louis Children’s Hospital that is joining the Undiagnosed Diseases Network, funded by the National Institutes of Health (NIH). The network is focused on solving rare medical mysteries.
Gene linked to respiratory distress in babies (Links to an external site)
The study is the first to identify a single gene — ABCA3 — that is associated with a significant number of cases of respiratory distress syndrome (RDS) in babies born at or near full term. RDS is the most common respiratory problem in newborns and the most common lung-related cause of death and disease among U.S. infants less than a year old.