News

Parents of children with Angelman syndrome are less economically productive, which results in millions of dollars of lost productivity for society as a whole, according to a new study in Australia. “The present study highlights the significant impact that caring for a child with [Angelman syndrome] imposes on parents’…

Despite having few signs and symptoms of Angelman syndrome (AS), an infant boy was eventually diagnosed by genetic testing as a result of his nonspecific developmental delays and unexplained low muscle tone, according to a case study. “This report is a good example for giving clinicians a lower threshold…

Increases in autophagy, a pathway for clearing cellular waste, were observed in cell and mouse models of Angelman syndrome (AS) in a recent study that revealed new details of this disease mechanism. Researchers noted that it isn’t yet clear whether this increase is a compensatory process to help restore…

Ultragenyx Pharmaceutical has been cleared by the U.S. Food and Drug Administration to proceed to higher dosing of its investigational gene therapy GTX-102 in children and adolescents with Angelman syndrome in a Phase 1/2 clinical trial. The amendment to the KIK-AS trial (NCT04259281) protocol in the…

The Angelman Syndrome Alliance (ASA) is currently accepting grant applications from scientists who are doing basic research to enhance understanding of Angelman syndrome and possibly pave the way toward future treatments. “Researchers of any country are invited to apply for research grants covering ‘basic science’ research that can…

A 9-month-old boy was diagnosed with Angelman syndrome alongside two genetically inherited diseases affecting the skin and hearing, a case study reported. According to researchers, this is the first case of Angelman reported with epidermolysis bullosa (EB), a rare disorder characterized by fragile skin that easily blisters and…

The diuretic bumetanide helped to improve cognition and lengthen the time to a seizure in a mouse model of Angelman syndrome, according to a new study from Japan. Bumetanide worked by blocking NKCC1, a protein that regulates the flow of chloride and other electrolytes in the body, all key in…

Oxidative stress and mitochondrial dysfunction during early brain development may contribute to symptoms in people with Angelman syndrome (AS), according to a recent study. These cellular changes were observed in developing nerve cells taken from mouse embryos with AS-like disease, but not their healthy counterparts, and were associated with…

The U.S.-based Angelman Syndrome Foundation (ASF) and the Canadian Angelman Syndrome Society (CASS) have partnered up to broaden their reach and expand their offerings within the Angelman community. As part of the team-up, CASS has changed its name to Angelman Syndrome Foundation Canada (ASF Canada). By working together,…

Spinal surgery for scoliosis carries a high likelihood of complications, including serious ones, among people with Angelman syndrome and a related disorder known as Prader-Willi syndrome, a study highlights. “These findings provide additional evidence to support the idea that surgical intervention in patients with scoliosis with underlying AS [Angelman…