Home LiteratureArticle Details
PMID: 27782107 Published · ppublish English Journal Article

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

European journal of human genetics : EJHG ·Vol. 25 ·No. 2 ·2017-00-00 ·Pages 162-165

Lochmüller H, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Lasko P, Dawkins HJ, Austin CP, Boycott KM

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
  1. IRDiRC-recommended.
    Eur J Hum Genet. 2016 Jul;24(7):955 PMID: 27307111
  2. Enhancing translation: guidelines for standard pre-clinical experiments in mdx mice.
    Neuromuscul Disord. 2012 Jan;22(1):43-9 PMID: 21737275
  3. 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
  4. PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
    Hum Mutat. 2015 Oct;36(10):931-40 PMID: 26251998
  5. Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
    Hum Mutat. 2015 Oct;36(10):941-9 PMID: 26220709
  6. 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
  7. GENOMICS. A federated ecosystem for sharing genomic, clinical data.
    Science. 2016 Jun 10;352(6291):1278-80 PMID: 27284183
  8. 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
  9. The Matchmaker Exchange: a platform for rare disease gene discovery.
    Hum Mutat. 2015 Oct;36(10 ):915-21 PMID: 26295439
  10. 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
  11. 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
  12. 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
  13. International Charter of principles for sharing bio-specimens and data.
    Eur J Hum Genet. 2015 Jun;23(6):721-8 PMID: 25248399
  14. 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
Article Info
Journal
European journal of human genetics : EJHG
Abbr.
Eur J Hum Genet
ISSN
1476-5438
Published
2017-00-00
Epub
2016-00-26
Pages
162-165
Language
English
Region
England
NLM ID
9302235
PMCID
PMC5255942
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]