February 20, 2018 – Launch of The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
Shire, Microsoft and EURORDIS announced a strategic alliance to address the diagnostic challenge for patients living with a rare disease. The long road to diagnosis is one of the most important issues affecting the health, longevity and well-being for rare disease patients and their families. The purpose of the Global
Commission is to establish a roadmap for the rare disease field that focuses on solutions to core barriers
preventing timely diagnosis for all rare diseases – with an emphasis on those affecting children. The
Global Commission brings together representatives from multiple sectors to provide diverse perspectives
on rare disease diagnostics. Learn more here.
February 16, 2018 – EURORDIS calls on European Commission to secure UK Healthcare Providers’ post-Brexit involvement in European Reference Networks.
Rare Disease Europe calls on the European Commission to secure the continuous and sustained involvement of UK healthcare providers as members of the newly established European Reference Networks (ERNs) in the forthcoming Brexit negotiations with the UK government. This will help to secure strong mutual benefit for both the European Union and United Kingdom. Read more here.
December 19, 2017 – FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss
The U.S. Food and Drug Administration today approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy, to treat children and adult patients with an inherited form of vision loss that may result in blindness. Luxturna is the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene. See more