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Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Author information

1
Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK. Hanns.Lochmuller@newcastle.ac.uk.
2
Autonomous University of Barcelona, Barcelona, Spain.
3
EURORDIS-Rare Diseases Europe, Paris, France.
4
IRDiRC Scientific Secretariat, Inserm US-14, Paris, France.
5
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.
6
Western Australian Register of Developmental Anomalies, WA, Perth, Australia.
7
National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, MD, USA.
8
Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
9
Department of Biology, McGill University, Montréal, QC, Canada.
10
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.

Abstract

The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. The 25 funding members and 3 patient umbrella organizations (as of early 2013) of IRDiRC, a consortium of research funders that focuses on improving diagnosis and therapy for rare disease patients, agreed in Dublin, Ireland in April 2013 on the Policies and Guidelines that emphasize collaboration in rare disease research, the involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources. The Policies and Guidelines provide guidance on ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, models, publication, intellectual property, and communication. Most IRDiRC members-currently nearly 50 strong-have since incorporated its policies in their funding calls and some have chosen to exceed the requirements laid out, for instance in relation to data sharing. The IRDiRC Policies and Guidelines are the first, detailed agreement of major public and private funding organizations worldwide to govern rare disease research, and may serve as a template for other areas of international research collaboration. While it is too early to assess their full impact on research productivity and patient benefit, the IRDiRC Policies and Guidelines have already contributed significantly to improving transparency and collaboration in rare disease research.

PMID:
29158551
PMCID:
PMC5865169
DOI:
10.1038/s41431-017-0008-z
[Indexed for MEDLINE]
Free PMC Article

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