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.
MeSH Terms
Genetics, Medical/economics,organization & administration,standards
Humans
Information Dissemination
International Cooperation
Peer Review
Rare Diseases/diagnosis,genetics,therapy
Societies, Medical
Translational Research, Biomedical/economics,organization & administration,standards
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Lochmüller Hanns
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Le Cam Yann
European Organisation for Rare Diseases (EURORDIS), Paris, France.
Jonker Anneliene H
IRDiRC Scientific Secretariat, Inserm US 14, Paris, France.
Lau Lilian Pl
IRDiRC Scientific Secretariat, Inserm US 14, Paris, France.
Baynam Gareth
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia. | Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.
Kaufmann Petra
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.
Lasko Paul
Department of Biology, McGill University, Montreal, Quebec, Canada.
Dawkins Hugh Js
Department of Health, Office of Population Health Genomics, Public Health Division, Government of Western Australia, Perth, Western Australia, Australia.
Austin Christopher P
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.
Boycott Kym M
Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
References (14)
14 references, click to expand
-
IRDiRC-recommended.
Eur J Hum Genet. 2016 Jul;24(7):955
PMID: 27307111
-
Enhancing translation: guidelines for standard pre-clinical experiments in mdx mice.
Neuromuscul Disord. 2012 Jan;22(1):43-9
PMID: 21737275
-
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.
Neuromuscul Disord. 2008 Dec;18(12):997-1001
PMID: 18948006
-
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat. 2015 Oct;36(10):931-40
PMID: 26251998
-
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
Hum Mutat. 2015 Oct;36(10):941-9
PMID: 26220709
-
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases.
Orphanet J Rare Dis. 2013 Oct 23;8:171
PMID: 24148153
-
GENOMICS. A federated ecosystem for sharing genomic, clinical data.
Science. 2016 Jun 10;352(6291):1278-80
PMID: 27284183
-
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Orphanet J Rare Dis. 2015 Apr 23;10:49
PMID: 25902795
-
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat. 2015 Oct;36(10 ):915-21
PMID: 26295439
-
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74
PMID: 24217912
-
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat. 2013 Nov;34(11):1449-57
PMID: 23913485
-
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.
Hum Mutat. 2012 May;33(5):803-8
PMID: 22422702
-
International Charter of principles for sharing bio-specimens and data.
Eur J Hum Genet. 2015 Jun;23(6):721-8
PMID: 25248399
-
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98
PMID: 25428349