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…
News
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…
From the balcony of their spacious home in the Israeli town of Beit Shemesh, Faige and David Spolter enjoy a commanding view of the Judaean Hills, and the ancient Catholic monastery of Beit Jamal overlooking a ridge in the distance. The Spolters are modern Orthodox Jews who immigrated…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
A first patient has been randomized in the NEPTUNE trial, which is testing oral OV101 (gaboxadol) as a potential treatment for Angelman syndrome. Ovid, the pharmaceutical company that is developing OV101, made the announcement in a press release. OV101 is a small molecule derived from a component found…
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