Babies born with a faulty maternal copy of the UBE3A gene will develop Angelman syndrome, a severe neurodevelopmental disorder with no cure and limited treatments. Now, for the first time, scientists at the UNC School of Medicine show that gene editing and gene therapy techniques can be used to restore UBE3A in human neuron cultures and treat deficits in an animal model of Angelman syndrome.

This work, published in Nature and led by senior author Mark Zylka, PhD, Director of the UNC Neuroscience Center and W.R. Kenan, Jr. Distinguished Professor of Cell Biology and Physiology, lays important groundwork for a long-lasting treatment or cure for this debilitating disease, as well as a therapeutic path forward for other single-gene disorders.