International Joint Recommendations for Undiagnosed Rare Disease Patients Dissemination Paper
On behalf of patients living with undiagnosed and rare diseases across Europe, North America, Australia and Japan, SWAN UK (the support group run by Genetic Alliance UK); the Wilhelm Foundation, EURORDIS (Rare Diseases Europe); Rare Voices Australia (RVA); the Canadian Organization for Rare Disorders (CORD); the Advocacy Service for Rare and Intractable Diseases’ stakeholders in Japan (ASrid); and the National Organization for Rare Disorders (NORD) jointly submit the following list of recommendations to address the specific needs of patients without a diagnosis. We urge all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.