News

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…

As COVID-19 vaccination programs are being rolled out across the U.S., the Angelman Syndrome Foundation’s 15q Clinical Research Network (CRN) is seeking to address questions and concerns about the vaccines from Angelman syndrome (AS) patients and caregivers. The insight comes from clinicians and Angelman experts at the research network,…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

Two patient advocacy groups have joined forces to present a unified voice when interacting with pharmaceutical companies and scientists looking to conduct in Angelman syndrome (AS) research. This initiative of the Angelman Syndrome Alliance (ASA) and Angelman Syndrome Foundation (ASF), called the Global Community Advisory Board, will represent…