News

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…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

The Foundation for Angelman Syndrome Therapeutics (FAST) has awarded researchers with a grant to develop novel methods to accurately assess gait and mobility across age groups in patients with Angelman syndrome. The research project is led by Jill L. Silverman, PhD, at the University of California, Davis, and Jessica…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…

Further preliminary safety and efficacy data from a Phase 1/2 clinical trial into the investigational therapy GTX-102 in children and adolescents with Angelman syndrome may allow the study to resume patient enrollment and dosing. GeneTx Biotherapeutics and Ultragenyx , which are co-developing the treatment, shared these data in presentations at the recent…