News

Ionis Pharmaceuticals intends to launch a clinical trial later this year to test ION582, a potential Angelman syndrome therapy.  The Phase 1/2a trial, designed to enroll up to 50 patients, is expected to start in the second half of 2021, Ionis wrote in a letter to the…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to BIO017, a candidate therapy for Angelman syndrome being developed by Biom Therapeutics, the company has announced. Orphan drug status is designed to encourage therapies for rare and serious diseases, through benefits such as seven…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

The Foundation for Angelman Syndrome Therapeutics, known as FAST, is partnering with the Simons Foundation Autism Research Initiative (SFARI) to launch the International Angelman Syndrome Research Council — or INSYNC-AS — with a goal to “build community and leverage the combined skills of world leaders in neuroscience, clinical…

A reliable tool for parents or caregivers to judge the quality of nonverbal communication in Angelman syndrome patients is now available, according to the Foundation for Angelman Syndrome Therapeutics (FAST), which supported work that lead to its development. Called Observer-Reported Communication Ability (ORCA), the tool grew from a partnership between FAST and…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

A $200,000 Comcast NBCUniversal grant has been awarded to The Arc to increase access to educational resources for students of color and economically disadvantaged youngsters with intellectual and developmental disabilities (IDD), which can include Angelman syndrome. The award will fund the organization’s community-based The Arc@School initiative to expand its…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…