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Eur J Hum Genet. 2017 Feb;25(2):162-165. doi: 10.1038/ejhg.2016.137. Epub 2016 Oct 26.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Author information

1
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
2
European Organisation for Rare Diseases (EURORDIS), Paris, France.
3
IRDiRC Scientific Secretariat, Inserm US 14, Paris, France.
4
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
5
Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.
6
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.
7
Department of Biology, McGill University, Montreal, Quebec, Canada.
8
Department of Health, Office of Population Health Genomics, Public Health Division, Government of Western Australia, Perth, Western Australia, Australia.
9
Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Abstract

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 pace of discoveries and translation into clinical applications for the rare disease (RD) research community. In its first year of implementation, 13 resources successfully applied for this designation, each focused on key areas essential to IRDiRC objectives and to the field 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.

PMID:
27782107
PMCID:
PMC5255942
DOI:
10.1038/ejhg.2016.137
[Indexed for MEDLINE]
Free PMC Article

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