Researchers Identify Potential Treatment for Angelman Syndrome

Researchers in the lab of 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, have identified a small molecule that could lead to a safe and effective treatment for the neurodevelopmental condition known as Angelman syndrome.

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.

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