News

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…

NORD’s Caregiver Respite Program Continues Through Pandemic

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…

Art Contest Salutes Creativity of Rare Disease Communities

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…

New Data on GTX-102 May Support Restart of Phase 1/2 Trial

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…

ASF’s 15q Clinical Research Network Offers Q & A on COVID-19 Vaccines

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,…