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A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

  • Christine M. Cutillo
  • Christopher P. Austin
  • Stephen C. Groft
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1031)

Abstract

Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their families, communities, and society. As such, global integration of rare diseases research is necessary to accelerate the understanding, diagnosis, and treatment of rare disorders. The International Rare Diseases Research Consortium (IRDiRC) was born out of that need for a coordinated international community. IRDiRC was launched in 2011 to facilitate cooperation and collaboration on a global scale among the many stakeholders active in rare diseases research to stimulate better coordination, and thereby maximize output of rare diseases research efforts around the world. Members include funders, academic researchers, companies, and patient advocacy organizations all of whom share the common goals and principles of IRDiRC. The overarching objectives of the Consortium are to contribute to the development of 200 new therapies and a means to diagnose most rare diseases, by 2020. As IRDiRC approaches the end of its fifth year, these initial objectives have been largely achieved and new partners from across the globe are joining. This presents the Consortium with the exciting opportunity to set new and even more ambitious goals for the next phase with the ultimate goal of improved health through faster and better diagnostic capabilities and novel therapies for people living with rare diseases and conditions throughout the world.

Keywords

Policy International Consortium Collaborative model Diagnostics Data standards Data sharing Therapies 

Notes

Acknowledgements

The authors would like to thank present and former representatives of the IRDiRC Consortium Assembly, present and former members of the IRDiRC Committees, Working Groups, Task Forces, and the IRDiRC Scientific Secretariat for their support, work, and continuous engagement. Christopher P. Austin has contributed to this work in his capacity as Chair of the IRDiRC Consortium Assembly, not in his role as director of the National Center for Advancing Translational Sciences. For updated information on the new goals, and the work of IRDiRC and its members, please visit the IRDiRC website.

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  • Christine M. Cutillo
    • 1
  • Christopher P. Austin
    • 2
  • Stephen C. Groft
    • 2
  1. 1.Health Science Policy Analyst, National Center for Advancing Translational SciencesBethesdaUSA
  2. 2.National Center for Advancing Translational SciencesNational Institutes of HealthBethesdaUSA

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