Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle control, limited speech, epilepsy, and intellectual disabilities. Though there isn’t a cure for the condition, new research at the UNC School of Medicine is setting the stage for one.
Ben Philpot, PhD, the Kenan Distinguished Professor of Cell Biology and Physiology at the UNC School of Medicine and associate director of the UNC Neuroscience Center, and his lab have identified a small molecule that could be safe, non-invasively delivered, and capable of “turning on” the dormant paternally-inherited UBE3A gene copy brain-wide, which would lead to proper protein and cell function, amounting to a kind of gene therapy for individuals with Angelman syndrome.
“This compound we identified has shown to have excellent uptake in the developing brains of animal models,” said Philpot, who is a leading expert on Angelman syndrome and a member of UNC Lineberger Comprehensive Cancer Center. “We still have a lot of work to do before we could start a clinical trial, but this small molecule provides an excellent starting point for developing a safe and effective treatment for Angelman syndrome.”
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