Researchers Identify RAB5B Gene Mutation Behind Rare Childhood Lung Disease

A 2-year-old child with undiagnosed interstitial lung disease died from the condition caused by the RAB5B gene mutation.

In the quiet aftermath of a young child's death from an unexplained lung disease, researchers at Washington University have named what could not be named in time: a spontaneous mutation in the RAB5B gene that did not merely silence a protein, but turned it against the very cells it was meant to serve. The discovery, made possible through the NIH's Undiagnosed Diseases Network, arrives too late for one family yet opens a door for the many others living in the shadow of a diagnosis without a name. Science, at its most humbling, sometimes solves its mysteries only after the cost has already been

Researchers Identify RAB5B Gene Mutation Behind Rare Childhood Lung Disease

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