News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

As part of her medical training, North Carolina pediatrician Elizabeth Jalazo had studied a little about Angelman syndrome. “I knew enough about it to answer a board question, but I didn’t know the complexity of the disorder,” she said. “I’m sure most general pediatricians would share the same sentiment.”…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

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…