Identifying barriers and policy priorities for rare disease research in underrepresented European countries
EUROPEAN JOURNAL OF PUBLIC HEALTH, cilt.36, sa.4, ss.1-3, 2026 (SCI-Expanded, SSCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 36 Sayı: 4
- Basım Tarihi: 2026
- Doi Numarası: 10.1093/eurpub/ckag103
- Dergi Adı: EUROPEAN JOURNAL OF PUBLIC HEALTH
- Derginin Tarandığı İndeksler: Academic Search Ultimate (EBSCO), Natural Science Collection (ProQuest), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Scopus, Pharma Collection (ProQuest), Sociology Source Ultimate (EBSCO), Science Citation Index Expanded (SCI-EXPANDED), Social Sciences Citation Index (SSCI), ABI/INFORM, Abstracts in Social Gerontology, CINAHL, Educational research abstracts (ERA), EMBASE, Index Islamicus, MEDLINE, Political Science Complete, Psycinfo, Public Affairs Index, Directory of Open Access Journals, Political Science Abstract (IPSA)
- Sayfa Sayıları: ss.1-3
- İstanbul Medipol Üniversitesi Adresli: Evet
Özet
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 A modified Delphi approach without formal consensus thresholds of 186 respondents highlighted fragmented or outdated policies and heterogeneous funding.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.