Rare disease preparedness: the time is now

References

[1] Lancet Global Health. The landscape for rare diseases in 2024.Lancet Glob Health.2024;12:e341

[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,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,Child C,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,Tisdale A,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 PMCID:PMC8553605

[13] van Doorn HR.The epidemiology of emerging infectious diseases and pandemics.Medicine.2021;49:659-62 PMCID:PMC8379607

[14] Mazzucato M,Minichiello C,Vianello A.Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.Orphanet J Rare Dis.2023;18:362 PMCID:PMC10655462

[15] McNeill A.Good genotype-phenotype relationships in rare disease are hard to find.Eur J Hum Genet.2022;30:251 PMCID:PMC8904513

[16] Cooper DN,Polychronakos 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 PMCID:PMC3778950

[17] Rao A,Ward-Lev E.Health-related quality of life in patients with diverse rare diseases: an online survey.Genet Med Open.2024;2:101889.

[18] Laurie S,de Boer E.Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Nat Med.2025;31:478-89.

[19] Gu Y,Tang H.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,Taubel J.CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis.N Engl J Med.2021;385:493-502

[21] Akenroye TO,Elbaz J.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,Hoyt K.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 PMCID:PMC10357101

[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 PMCID:PMC3790314

[25] Kokudo N.Call for international cooperation and collaboration to effectively tackle the COVID-19 pandemic.Glob Health Med.2020;2:60-2 PMCID:PMC7731425

[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,Andriukaitis V.Rare diseases: still on the fringes of universal health coverage in Europe.Lancet Reg Health Eur.2024;37:100783 PMCID:PMC10758954

[29] Jonker AH,Nishimura Y.Access in the rare diseases landscape.Lancet Global Health.2024;12:e1587

[30] Alves MCS,de Leitão-Júnior SSP.Therapeutic approaches for COVID-19: a review of antiviral treatments, immunotherapies, and emerging interventions.Adv Ther.2025;42:3045-58 PMCID:PMC12182464