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European Journal of Human Genetics (2017) 25, 162165
Ofcial journal of The European Society of Human Genetics
http://www.nature.com/ejhg
Web End =www.nature.com/ejhg
POLICY
IRDiRC Recognized Resources: a new mechanism to support scientists to conduct efcient, high-quality research for rare diseases
Hanns Lochmller1, Yann Le Cam2, Anneliene H Jonker3, Lilian PL Lau3, Gareth Baynam4,5, Petra Kaufmann6, Paul Lasko7, Hugh JS Dawkins8, Christopher P Austin6 and Kym M Boycott*,9on behalf of the IRDiRC Scientic Committees
The International Rare Diseases Research Consortium (IRDiRC) has created a quality label, IRDiRC Recognized Resources, formerly known as IRDiRC Recommended. It is a peer-reviewed quality indicator process established based on the IRDiRC Policies and Guidelines to designate resources (ie, standards, guidelines, tools, and platforms) designed to accelerate the paceof discoveries and translation into clinical applications for the rare disease (RD) research community. In its rst year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the eld of RD research more broadly. These included data sharing for discovery, knowledge organisation and ontologies, networking patient registries, and therapeutic development. IRDiRC Recognized Resources is a mechanism aimed to provide community-approved contributions to RD research higher visibility, and encourage researchers to adopt recognised standards, guidelines, tools, and platforms that facilitate research advances guided by the principles of interoperability and sharing. European Journal of Human Genetics (2017) 25, 162165; doi:http://dx.doi.org/10.1038/ejhg.2016.137
Web End =10.1038/ejhg.2016.137; published online 26 October 2016
The International Rare Diseases Research Consortium (IRDiRC) was launched in 2011 to foster international research collaboration and investment in the eld of rare disease (RD), with the objectives to contribute to the development of 200 new therapies and the means to diagnose most RDs by the year 2020. In 2013, IRDiRC issued its Policies and Guidelines document, composed of principles that its members agree to follow and recommendations made by IRDiRC Scientic Committees that offer advice on best practices for RD research.1 It emphasises the need for collaboration in RD research, the involvement of patients and their representatives in all relevant aspects of research, and the importance of sharing data and resources. On the basis of these principles and to contribute to its mission, IRDiRC introduced a quality indicator in March 2015 called IRDiRC Recommended to highlight for...