News

Nominations Open for 2022 Eurordis Black Pearl Awards

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

Experts Review Benefits, Challenges of Family Genetic Testing

Family genetic testing can help to diagnose people with rare genetic conditions like Fabry disease, but there still are several barriers to implementing family genetic testing worldwide, according to an international panel of researchers who are using their experiences to share strategies for improving such testing. The review, “…

EveryLife Introduces First of Kind ‘Roadmap’ to ICD Codes

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

New Dosing Protocol May Shorten Fabrazyme Infusions

A new infusion protocol that gradually reduces the amount of time needed for the delivery of the Fabry disease therapy Fabrazyme (algasidase beta) is safe and well-tolerated, a study reports. The study, “Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion…