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Review
. 2018 Jan;11(1):11-20.
doi: 10.1111/cts.12501. Epub 2017 Oct 23.

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

Hugh J S Dawkins  1 , Ruxandra Draghia-Akli  2   3 , Paul Lasko  4 , Lilian P L Lau  5 , Anneliene H Jonker  5 , Christine M Cutillo  6 , Ana Rath  5   7 , Kym M Boycott  8 , Gareth Baynam  9   10 , Hanns Lochmüller  11 , Petra Kaufmann  6 , Yann Le Cam  12 , Virginie Hivert  12 , Christopher P Austin  6 ; International Rare Diseases Research Consortium (IRDiRC)
Affiliations
Review

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

Hugh J S Dawkins et al. Clin Transl Sci. 2018 Jan.
No abstract available

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Figures

Figure 1
Figure 1
IRDiRC member institutions are found across Europe, North America, Middle East, Asia, and Australia. Its membership has grown steadily over the years, with participation from research funders, companies, and patient advocates.
Figure 2
Figure 2
IRDiRC is composed of a Consortium Assembly (formerly Executive Committee), an Operating Committee, three Constituent Committees, three Scientific Committees, a number of Task Forces, and a Scientific Secretariat.
Figure 3
Figure 3
Distribution of funded projects and trials by type of research.
Figure 4
Figure 4
Distribution of research projects by medical domain.
Figure 5
Figure 5
Distribution of clinical trials by medical domain.
Figure 6
Figure 6
Distribution of clinical trials by modality.
Figure 7
Figure 7
Distribution of drug clinical trials by phase.
See this image and copyright information in PMC

References

    1. Stolk, P. , Willemen, M.J. & Leufkens, H.G. Rare essentials: drugs for rare diseases as essential medicines. Bull. World Health Organ. 84, 745–751 (2006). - PMC - PubMed
    1. Prevalence and Incidence of Rare Diseases: Bibliographic Data, in Orphanet Report Series, Rare Diseases Collection (eds. Rath, A. & Nguengang‐Wakap, S.). http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_disease... (2016) Accessed: 29 May 2017.
    1. Tambuyzer, E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat. Rev. Drug Discov. 9, 921–929 (2010). - PubMed
    1. Boycott, K.M. et al International cooperation to enable the diagnosis of all rare genetic diseases. Am. J. Hum. Genet. 100, 695–705 (2017). - PMC - PubMed
    1. Melnikova, I. Rare diseases and orphan drugs. Nat. Rev. Drug Discov. 11, 267–268 (2012). - PubMed

MeSH terms