News

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

The Angelman Syndrome Foundation (ASF) and the Canadian Angelman Syndrome Society (CASS) are partnering, both to increase research into the complex neurological genetic disorder and to support the families affected by it. Angelman syndrome (AS) affects an estimated 1 in 15,000 individuals, or about 500,000…

The presence of a common genetic variation in women may increase the risk of deficient genomic imprinting and the development of Angelman syndrome in their children, a study shows. The researchers emphasized, however, that only rare cases of Angelman are caused by imprinting defects, and that the risk…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

Ovid Therapeutics‘ OV101 (gaboxadol) has been granted a rare pediatric disease designation by the U.S. Food and Drug Administration (FDA) for the treatment of Angelman syndrome. This designation is…

Note: This story was updated on June 24, 2020, to clarify that higher daily doses, rather than long-term exposure, were thought to contribute to the loss of benefit. The headline was also changed to more accurately reflect the mechanism by which therapy effectiveness may be affected.  Higher daily doses of…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Supporting efforts to find effective treatments for Angelman syndrome (AS), the Foundation for Angelman Syndrome Therapeutics (FAST) has awarded two UC Davis MIND Institute scientists a $3 million grant. The recipients are Jill Silverman, PhD, associate professor in the Institute’s department of psychiatry and behavioral sciences, and…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Asklepios BioPharmaceutical (AskBio) and the University of North Carolina at Chapel Hill (UNC) have entered into an agreement for the development of a gene therapy for Angelman syndrome. Angelman syndrome is caused by the loss-of-function of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene. The…