Regional News

OHSU Advancement In Rare Genetic Disease

(Portland, OR) -- Researchers at Oregon Health & Science University have discovered a way to predict the severity of an extremely rare genetic disorder that affects about 40 children worldwide. It's called UBA5 disease. Symptoms include motor control issues, cognitive challenges, growth impairments and other medical complications. It progresses into chronic seizures and early death. Researchers have found a gene mutation that's responsible and depending on which mutation they can determine whether it will be mild, intermediate or severe. It's hoped the discovery will also lead to treatments.

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