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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 [email protected] 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,…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

On International Angelman Day (IAD), Feb. 15 this year, supporters are hoping to draw widespread attention to the complex genetic neurological disorder and prompt conversations about the community and its needs. Angelman syndrome (AS) — which affects about 1 in 15,000 people, or half a million, worldwide — can…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

The establishment of Foundation for Angelman Syndrome Therapeutics (FAST) operations in Latin America is expected to improve the quality of life for the roughly 42,000 people in that region who are living with Angelman syndrome (AS). FAST Latin America (FAST LatAm) has become the regional umbrella for the…