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  • Recommendations to create Rare Disease Registries
 

Recommendations to create Rare Disease Registries

RD-Connect

An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:

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September 28, 2018

Recommendations to create Rare Disease Registries

Last month, RD-Connect has successfully published a paper “Recommendations for Improving the Quality of Rare Disease Registries” available in the International Journal of Environmental Research and Public Health. The article provides a list of recommendations, developed by a group of experts, including members of patient organisations, to be used as a framework for improving the quality of rare disease patient registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new rare disease registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organisational and data quality.

Recognising the importance of this publication, EURORDIS has summarised the key recommendations in their new video “Recommendations to create Rare Disease Registries” available here.

We recommend watching the video and reading the publication to anyone involved the rare disease field, particularly those interested in setting up a new rare disease patient registry.

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An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:

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    • Contact
    • Project partners
    • Partner organisations
  • About
    • Introduction to rare diseases
    • RD-Connect Community
      • About the RD-Connect Community
      • Register as member
      • Structure
    • Funding and collaborations
    • RD-Connect (2012 – 2018)
      • The original EU-funded project
      • Project partners
      • Partner organisations
      • Executive Management Committee (EMC)
      • Scientific Advisory Board (SAB)
      • Patient Advisory Council (PAC)
      • Rare Disease Patient and Ethics Council (RD-PEC)
      • Periodic activity reports
  • What we do
    • Omics data
      • Genome-Phenome Analysis Platform
      • FAQ
      • Data Submission Guide
      • PhenoTips Guide
    • Data linkage
      • FAIRification of rare disease registries
      • Linked data and ontology task force
      • Ontologies in rare disease registries
    • Patient registry data
      • Registry & Biobank Finder for patient registries
      • Registry common data elements
      • Core Implementation Group
    • Biosamples data
      • Registry & Biobank Finder for biobanks
      • Sample Catalogue
      • Biobank assessment process
      • Biobank Assessment Panel
    • Bioinformatic tools
    • Ethical, Legal and Social Issues (ELSI)
      • Sharing of biosamples and data
      • Standards for informed consent
    • Patient engagement
  • Resources
    • Forms and user guides
      • See all forms and guides
      • PhenoTips Guide
      • Data Submission Guide
    • FAQs
      • FAQ: Genome-Phenome Analysis Platform
      • FAQ: Sample Catalogue
    • Newsletters
    • Presentations and flyers
    • Videos
    • Scientific publications
    • Glossary
    • Privacy policy
  • For Patients and Families
  • News
  • Events
  • Contact

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RD-Connect

RD-Connect coordination team

Centro Nacional de Análisis Genómico (CNAG-CRG)
Baldiri Reixac, 4,
Barcelona, 08028
Spain

Email: Sergi Beltran Agulló (Project Lead) or info@rd-connect.eu.

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