REFERENCES
2. Rare Diseases at FDA 2024. Available from: https://www.fda.gov/patients/rare-diseases-fda#whatisraredis [Last accessed on 22 Apr 2026].
3. What is a rare disease. Available from: https://www.eurordis.org/fr/what-is-a-rare-disease/ [Last accessed on 22 Apr 2026].
4. KEI briefing note 2020: 4 selected governament definitions of orphan or rare diseases. Available from: https://www.keionline.org/bn-2020-4 [Last accessed on 22 Apr 2026].
5. Rare Diseases. Available from: https://www.sciensano.be/en/health-topics/rare-diseases [Last accessed on 22 Apr 2026].
6. Ali S, Archer L, Jensen EL. COVID-19 and health equity: lessons learned from the pandemic. 2024. Available from: https://scholarsarchive.byu.edu/cgi/viewcontent.cgi?article=1126&context=joni [Last accessed on 22 Apr 2026].
7. World Health Organization. Seventy-eighth World Health Assembly - Daily update: 24 May 2025. Available from: https://www.who.int/news/item/24-05-2025-seventy-eighth-world-health-assembly---daily-update--24-may-2025 [Last accessed on 26 May 2026].
8. European Reference Networks. Available from: https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/european-reference-networks_en [Last accessed on 22 Apr 2026].
9. What is rare disease day? Available from: https://www.rarediseaseday.org/what-is-rare-disease-day/ [Last accessed on 22 Apr 2026].
10. Undiagnosed Diseases Network. Available from: https://undiagnosed.hms.harvard.edu/ [Last accessed on 22 Apr 2026].
11. Andreu P, Karam J, Child C, Chiesi G, Cioffi C. The burden of rare diseases: an economic evaluation. Available from: https://chiesirarediseases.com/assets/pdf/chiesiglobalrarediseases.whitepaper-feb.-2022_production-proof.pdf [Last accessed on 22 Apr 2026].
12. Navarrete-Opazo AA, Singh M, Tisdale A, Cutillo CM, Garrison SR. Can you hear us now? The impact of health-care utilization by rare disease patients in the United States. Genet Med. 2021;23:2194-201.
13. van Doorn HR. The epidemiology of emerging infectious diseases and pandemics. Medicine. 2021;49:659-62.
14. Mazzucato M, Visonà Dalla Pozza L, Minichiello C, Toto E, Vianello A, Facchin P. Estimating mortality in rare diseases using a population-based registry, 2002 through 2019. Orphanet J Rare Dis. 2023;18:362.
15. McNeill A. Good genotype-phenotype relationships in rare disease are hard to find. Eur J Hum Genet. 2022;30:251.
16. Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet. 2013;132:1077-130.
17. Rao A, Yabumoto M, Ward-Lev E, et al. Health-related quality of life in patients with diverse rare diseases: an online survey. Genet Med Open. 2024;2:101889.
18. Laurie S, Steyaert W, de Boer E, et al. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025;31:478-89.
19. Gu Y, Wang A, Tang H, et al. Comparison of rare and common diseases in the setting of healthcare priorities: evidence of social preferences based on a systematic review. Patient Prefer Adher. 2023;17:1783-97.
20. Gillmore JD, Gane E, Taubel J, et al. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis. N Engl J Med. 2021;385:493-502.
21. Akenroye TO, Abubakre A, Elbaz J, et al. Modeling the barriers to multistakeholder collaboration for COVID-19 pandemic response: evidence from Sub-Saharan Africa. Int Public Manag J. 2021;25:192-216.
22. O'Leary CN, Barnes-Weise J, Hoyt K, Bourdeaux M. Maintaining warp speed: policy requirements for a just-in-time, capability-based, scalable medical countermeasure research and development enterprise. Health Secur. 2023;21:272-9.
23. FDA rare disease innovation hub to enhance and advance outcomes of patients. Available from: https://www.fda.gov/news-events/fda-voices/fda-rare-disease-innovation-hub-enhance-and-advance-outcomes-patients [Last accessed on 22 Apr 2026].
24. Gahl WA. The battlefield of rare diseases: where uncommon insights are common. Sci Transl Med. 2012;4:154ed7.
25. Kokudo N, Sugiyama H. Call for international cooperation and collaboration to effectively tackle the COVID-19 pandemic. Glob Health Med. 2020;2:60-2.
26. U.S. Food and Drug Administration. Support for clinical trials advancing rare disease therapeutics (START) pilot program. Available from: https://www.fda.gov/science-research/clinical-trials-and-human-subject-protection/support-clinical-trials-advancing-rare-disease-therapeutics-start-pilot-program [Last accessed on 22 Apr 2026].
27. The Rare Disease Moonshot 2024. Available from: https://www.rarediseasemoonshot.eu [Last accessed on 22 Apr 2026].
28. Tumienė B, Juozapavičiūtė A, Andriukaitis V. Rare diseases: still on the fringes of universal health coverage in Europe. Lancet Reg Health Eur. 2024;37:100783.
29. Jonker AH, Cavaller-Bellaubi M, Nishimura Y, Pearce DA. Access in the rare diseases landscape. Lancet Global Health. 2024;12:e1587.
