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University Paris Diderot – Paris 7

RD-Connect

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University Paris Diderot – Paris 7

Area of work: Registries
Role: Full Partner

Contact:

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Role in RD-Connect:

Based on previous experience from the LeuFrance and Leukotreat projects (work package 1 leader, devoted to the European Leudodatabase) Odile BOESPFLUG-TANGUY’s team will be particularly involved in the WP2 (patient registries and databases) of the project devoted to patient registries. Her background in clinical practice, clinical research and basic research in rare neurodegenerative diseases will be of particularly interest for the project in order to define clinical dataset useful for ‑omics research, problems related to patient participation and consents, as well as links with Biobank and ‑omics data. She will be particularly responsible for the milestone devoted to the correlation between the clinical and the ‑omics dataset. UPD-P7 will also participate in WP 7 (impact, innovation and implementation).


The University Paris Diderot is one of the most active multidisciplinary University in Paris, employing 2,000 researchers in 92 research teams (in partnership with the national research institute CNRS, INSERM and CEA) and 2,300 PhD students of 23 doctoral schools. Odile BOESPFLUG-TANGUY, Professor in Medical Genetics, leads the child neurology and metabolic diseases department of the Robert Debre University Hospital. Her research team entitled « Glial cells interactions during normal and pathological development of the central nervous system (CNS) » labelled by INSERM (UMR 931-GReD) will be transferred to the INSERM-Université Paris Diderot 7 UMR 676 (directed by P Gressens) in January 2012

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Recent news

62,000 samples available via RD-Connect sample catalogue

Published: February 5, 2019

RD-Connect – six years on and outlooks to the future

Published: October 31, 2018

New FAQ section for Sample Catalogue is out!

Published: October 19, 2018

Today is the World MCT8-AHDS Day!

Published: October 8, 2018

Recommendations to create Rare Disease Registries

Published: September 28, 2018

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

Genome-Phenome Analysis Platform

Analyse and share genomic data

Registry & Biobank Finder

Directory of rare disease biobanks and patient registries

Sample Catalogue

Browse rare disease biosamples stored in biobanks

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  • NEWS
  • EVENTS
  • CONTACT
    • 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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  • Genome-Phenome Analysis Platform
  • Registry & Biobank Finder
  • Sample Catalogue

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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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