News

Shared mission to rally support for International Angelman Day

Supporters globally are poised for International Angelman Day (IAD), set aside annually on Feb. 15, to call attention to Angelman syndrome and the 500,000 people globally estimated to be affected by the complex neurological disorder. In addition to spreading awareness about Angelman, the event seeks to unite and mobilize…

FAST, UPenn team to advance gene therapy candidate for Angelman

The Foundation for Angelman Syndrome Therapeutics (FAST) has teamed up with the University of Pennsylvania to develop an investigational gene therapy for Angelman syndrome. The nonprofit has sponsored preclinical research at the Gene Therapy Program at the University of Pennsylvania since 2017 to develop a gene therapy…

Insomnia common and troubling sleep problem: Angelman parents

Among the many sleeping problems facing children with Angelman syndrome, insomnia and the circadian rhythm disturbances that fracture sleep are the most frequent and troublesome, according to a survey of parents and caregivers. Sleep disturbances affect a child’s behavior at home and school, the adults noted, while depriving parents…

Ube3a protein helps regulate brain connections during development

The protein Ube3a, whose defect causes Angelman syndrome, helps regulate connections between brain cells during development. That’s according to the study, “Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling,” which was published in Science. “Our findings reveal the physiological role of Ube3a…