Rare diseases, which are defined as conditions that affect fewer than 1 in 2 000 individuals, affect around 36 million people in the European Union. Despite existing measures at the EU, national, regional and local levels, there remain significant gaps in research and knowledge as well as variations in access and treatment. This study investigates possible measures that could be taken at EU level to address these challenges. It finds significant European added value in harmonising coordination and access across the 27 Member States, mainly in terms of improved diagnostic tools and availability of medical treatment, better health outcomes, particularly lower infant mortality, and improved well-being of family members and caregivers. Source : © European Union, 2026 - EP Read more