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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
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