Research

Researchers solve medical mystery of deadly illness in young child

Washington University School of Medicine in St. Louis •
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.
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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. The research team identified a previously unknown genetic cause of interstitial lung disease, providing answers to the parents and doctors puzzled by the child’s condition.