Researchers at UNC identify small molecule for non-invasive treatment of Angelman syndrome by activating a dormant gene.
A potential treatment for Angelman syndrome, a rare genetic disorder causing poor muscle control, limited speech, epilepsy, and intellectual disabilities, has been identified by researchers at the University of North Carolina. The team led by Ben Philpot discovered a small molecule that could be non-invasively delivered and capable of "turning on" the dormant paternally-inherited UBE3A gene copy brain-wide, leading to proper protein and cell function. The compound has shown excellent uptake in animal model brains.
July 08, 2024
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