News

ORCA, Reliable Measure of Communication for Angelman, in Early Use

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…

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

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…

Pandemic Won’t Stop Rare Disease Day on Feb. 28

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…

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

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…

FAST LatAm Seeks to Improve Care in Latin America

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…