News

Terry Jo Bichell, whose son’s Angelman syndrome inspired her to go back to college at the age of 49 and get a PhD in neuroscience, has long advocated for families affected by the rare neurological disease. But now, she’s branching out. The Tennessee scientist and mother of five…

Blocking the activity of sodium-potassium ATPase, an enzyme that is essential in maintaining ion balance in all types of cells, can restore calcium dynamics and other abnormal neurological features in a mouse model of Angelman syndrome (AS), a study has found. The study, “α1-Na/K-ATPase inhibition rescues aberrant…

Sarepta Therapeutics and StrideBio are collaborating to develop viral-based gene therapies for treating Angelman syndrome and other central nervous system and neuromuscular disorders. Angelman syndrome is a neurological disorder caused by the loss or malfunction of the maternal copy of the UBE3A gene in neurons found in specific…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Taking the dietary supplements oral betaine and Metafolin (L-methylfolate, the active form of folic acid) cannot effectively ease developmental symptoms of children with Angelman syndrome, a…

PTC Therapeutics announced a strategic partnership with Aldevron to ensure the production of high-quality plasmid DNA to be used with PTC’s investigational gene therapies, including AGIL-AS for the treatment of Angelman syndrome (AS). PTC’s growing gene therapy pipeline for genetic disorders of the central nervous system…

The National Institutes of Health (NIH) has awarded two grants totalling $6.1 million to support two research projects: one focused on the development of a new gene therapy for Angelman syndrome, and the other on understanding how genetic defects in UBE3A (the gene that causes Angelman) may…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to candidate therapy NNZ-2591 to treat Angelman syndrome and two other childhood neurodevelopmental disorders for which there are no currently approved medications. Neuren Pharmaceuticals, the company that develops the therapy, submitted the applications…

Hypsarrhythmia — disorganized and chaotic brain activity with no recognizable pattern — may be an early marker of Angelman syndrome, according to a case study. The report, “Pseudo Hypsarrhythmia: An Early Marker of Angelman Syndrome,” was published in the Annals of Indian Academy of Neurology. Although seizures…

Whether by donating or cheering on the sidelines, people can show their support for the running team put together by the Angelman Syndrome Foundation (ASF) during the Bank of America Chicago Marathon on Oct. 13. Called the foundation’s Windy City Angels (WCA), 22 runners each raised more…