Identifying barriers and policy priorities for rare disease research in underrepresented European countries

The European Joint Programme on Rare Diseases successfully advanced rare disease research and also revealed challenges for underrepresented countries, those less frequently holding or leading grants. This study aimed to survey Rare Disease researchers in these countries, identify barriers to participation in research, and propose solutions. A modified Delphi approach without formal consensus thresholds of 186 respondents highlighted fragmented or outdated policies and heterogeneous funding. Nearly all participants prioritized the need for EU-wide policies defining minimum quality standards for Rare Disease care. Key priorities include access to genetic testing and essential services to support uniform care and shared research capacity.