News

Parents of children with Angelman syndrome think gene therapy trials to find a cure should be a priority and should focus on neurological symptoms as well as communication and motor skills, an online survey reveals.  Compared to a group of parents of…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Researchers at Ovid Therapeutics and the University of Connecticut (UConn) have announced a collaborative effort to expedite the development of a short hairpin RNA (shRNA) therapy for patients with Angelman syndrome. This novel therapeutic approach has potential as a standalone therapy, or in combination with OV101…

Angelini Pharma has obtained development, manufacturing and commercialization rights to Ovid Therapeutics’ OV101 (gaboxadol), an investigational treatment for Angelman syndrome, in the European Union, Switzerland, Turkey, the U.K., and Russia. The partnership is between Ovid and Angelini Pharma’s new affiliate, Angelini Pharma Rare Diseases AG. According to the license…

Pinnacle Hill will start a second project aimed at the development of a treatment for Angelman syndrome based on changing gene activity, the company announced. Pinnacle Hill is the result of a partnership between the University of North Carolina (UNC) at Chapel Hill and Deerfield Management,…

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…