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…
Linoleic acid, a fatty acid commonly found in seed oils, eased movement and balance problems in a mouse model of Angelman syndrome (AS), a study reported. AS mice fed a diet enriched with linoleic acid were found to have enhanced activity of PIEZO2, a protein channel found in nerve…
Because antisense oligonucleotide (ASO) therapies target specific genetic sequences, differences across mammals make it challenging to translate potential Angelman ASO-based therapies from preclinical models to the clinic. GTX-102, an investigational ASO therapy for Angelman syndrome, was specifically designed to be effective in patients and relevant animal models, however.
The UBE3A protein is needed shortly after birth for the proper development of the dorsomedial striatum, part of a brain region called the basal ganglia, a mouse study suggests. Findings shed new light on the neurological disruptions that give rise to Angelman syndrome and its symptoms, a disease caused by mutations that…
Breaking into a smile may hold the attention of people with Angelman syndrome (AS) for longer than just holding a neutral face, a study suggests. However, while positive facial emotions were attention-grabbing, people with AS didn’t spend as much time looking at them as did children who did not…
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