Rare diseases comprise from 5000 to 8000 life threatening or chronically debilitating diseases which together affect from 27 and 36 million people in the European Union. A lack of efficient treatment and accurate diagnosis for the majority of rare diseases represents an enormous unmet medical need and a major challenge for public health.
The main challenge for policies and related R&I is to improve the lives of patients with rare diseases. This report demonstrates how the results of recent research and innovation (R&I) projects funded by the EU contribute to five areas of policy challenges related to rare diseases: Improving diagnosis, prevention and treatment of rare diseases; Facilitating the regulatory pathway for potential treatments; Effective and equal provision of healthcare for patients with rare diseases; Effective management and pooling of research and medical data to benefit all patients; Contributing to and benefiting from global collaboration. EU Framework Programmes have funded research on rare diseases for more than two decades.
In FP7 and Horizon 2020, 164 projects have produced results and a selection of these were analysed in the context of the five policy challenges to develop five key policy recommendations