Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020).

Article  PubMed  Google Scholar 

World Heart Federation. Rare & neglected cardiovascular diseases. world-heart-federation.org https://world-heart-federation.org/world-heart-day/rare-cardiovascular-diseases/ (2026).

United Nations General Assembly. Addressing the challenges of persons living with a rare disease and their families. un.org https://docs.un.org/en/A/RES/78/173 (2023).

World Health Organization. Rare disease: a global health priority for equity and inclusion. who.int https://apps.who.int/gb/ebwha/pdf_files/WHA78/A78_R11-en.pdf (2025).

Baynam, G., Boycott, K. M., Johnson, K. & Mckay, L. Language in rare disease: a call for systemic and empathetic action. Lancet 407, 1216–1218 (2026).

Article  PubMed  Google Scholar 

Rohani-Montez, S. C. et al. Educational needs in diagnosing rare diseases: a multinational, multispecialty clinician survey. Genet. Med. Open 1, 100808 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Faye, F. et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur. J. Hum. Genet. 32, 1116–1126 (2024).

Article  PubMed  PubMed Central  Google Scholar 

Al-Attar, M., Butterworth, S. & McKay, L. A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease. Orphanet J. Rare Dis. 19, 172 (2024).

Article  PubMed  PubMed Central  Google Scholar 

Genetic Alliance UK. Good diagnosis: improving the experience of diagnosis for people with rare conditions. geneticalliance.org.uk https://geneticalliance.org.uk/wp-content/uploads/2024/01/Rare-Disease-UK-Good-Diagnosis-Report-2022-Final.pdf (2022).

Spencer-Tansley, R., Meade, N., Ali, F., Simpson, A. & Hunter, A. Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Serv. Res. 22, 648 (2022).

Article  PubMed  PubMed Central  Google Scholar