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Gene therapy restores missing dopamine in children with rare brain disease

After 8 years of living with an ultrarare genetic brain disorder that left her unable to walk or talk, a girl enrolled in a clinical trial whose new results suggest gene therapy can alter the course of such inherited diseases, even after many years, STAT reports. The patient had AADC deficiency, a disorder that keeps the brain from generating dopamine and serotonin, essential molecules that allow brain cells to communicate back and forth. Researchers injected harmless viruses carrying healthy copies of the AADC gene into her brain so cells would make a missing enzyme. Within months, the patient—and six other children in the trial—recovered the ability to generate dopamine, researchers report this week in Nature Communications. That has let many of them walk on their own—and talk with assistance—for the first time. The results also suggest the brain has an unexpected ability to make new connections once a missing enzyme is restored.

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