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.
