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  • Jan Kirschner
 

Jan Kirschner

RD-Connect

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

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Jan Kirschner

Position: Consultant Pediatric Neurologist, Deputy Head of Division
Organisation: Universitätsklinikum Freiburg

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Address: Division of Neuropediatrics and Muscle Disorders, Mathildenstrasse 1 , Freiburg, 79106, Germany

Background:

Medical studies in Freiburg, Newcastle-upon-Tyne (UK) and Bern (Switzerland). Board certificate in paediatrics and child. Main research interests are the treatment of neuromuscular diseases in the context of clinical trials and the differential diagnosis and pathophysiology of myopathies and muscular dystrophies. Active participation in research collaborations MD-Net (www.md-net.org) and TREAT-NMD (www.treat-nmd.eu). Project leader of the European Union funded project CARE-NMD (www.care-nmd.eu) to improve the care of patients with Duchenne muscular dystrophy in Europe.

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Go to Genome-Phenome Analysis Platform

Go to Registry & Biobank Finder

Go to Sample Catalogue

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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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