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REFERENCES
1. Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there? Nat Rev Drug Discov 2020;19:77-8. DOI PubMed PMC
2. Lamoreaux K, Lefebvre S, Levine DS, Erler W, Hume T. RARE-X. The power of being counted: a more accurate count of rare
diseases and steps to getting counted. Available from: https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf
[Last accessed on 14 Dec 2023].
3. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet
database. Eur J Hum Genet 2020;28:165-73. DOI PubMed PMC
4. Wouters OJ, McKee M, Luyten J. Estimated research and development investment needed to bring a new medicine to market, 2009-
2018. JAMA 2020;323:844-53. DOI PubMed PMC
5. IRDiRC. Vision & Goals. Available from: https://irdirc.org/about-us/vision-goals/ [Last accessed on 4 Dec 2023].
6. Austin CP, Cutillo CM, Lau LPL, et al; International Rare Diseases Research Consortium (IRDiRC). Future of rare diseases research
2017-2027: an IRDiRC perspective. Clin Transl Sci 2018;11:21-7. DOI PubMed PMC
7. Monaco L, Zanello G, Baynam G, et al. Research on rare diseases: ten years of progress and challenges at IRDiRC. Nat Rev Drug
Discov 2022;21:319-20. DOI PubMed PMC
8. IRDiRC. Task forces & working groups. Available from: https://irdirc.org/activities/task-forces/ [Last accessed on 4 Dec 2023].
9. Zanello G, Garrido-Estepa M, Crespo A, et al. Targeting shared molecular etiologies to accelerate drug development for rare diseases.
EMBO Mol Med 2023;15:e17159. DOI PubMed PMC
10. EJP-RD. Project structure. Available from: https://www.ejprarediseases.org/what-is-ejprd/project-structure/ [Last accessed on 4 Dec
2023].
11. Kolkhir P, Grad DA, Charalampous P, et al. An EU task force to assess the burden of rare diseases. Nat Med 2023;29:516-7. DOI
12. Zanello G, Chan CH, Pearce DA; IRDiRC Working Group. Recommendations from the IRDiRC Working Group on methodologies to
assess the impact of diagnoses and therapies on rare disease patients. Orphanet J Rare Dis 2022;17:181. DOI PubMed PMC
13. Wang CM, Julkowska D, Chan CH, Pearce DA, Monaco L. COVID-19 and rare diseases: reflections and recommendations by
the International Rare Diseases Research Consortium. Rare Dis Orphan Drugs J 2021;1:4. DOI
14. Dawkins HJS, Draghia-Akli R, Lasko P, et al; International Rare Diseases Research Consortium (IRDiRC). Progress in rare diseases
research 2010-2016: an IRDiRC perspective. Clin Transl Sci 2018;11:11-20. DOI PubMed PMC