RD-ConnectRD-Connect

  • About
    • Introduction to rare diseases
    • RD-Connect Community
      • About the RD-Connect Community
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        • Community Executive Committee (CEC)
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    • RD-Connect (2012 – 2018)
      • The original EU-funded project
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      • 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
        • FAQ: 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
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  • For Patients and Families
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  • Alstrom Syndrome UK
 

Alstrom Syndrome UK

RD-Connect

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

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Alstrom Syndrome UK

Area of work: Ethical Legal Social Issues
Role:

Contact:

Website

Address: 31 Shearwater Drive,, Torquay, Devon, TQ2 7TL, United Kingdom

Role in RD-Connect:

Alström Syndrome UK has a role on the RD-Connect Patient Advisory Council (PAC).


Alström Syndrome UK works to Advance Diagnosis, Care, Treatment and Support for those living with Alström Syndrome in the UK and throughout Europe.

Members:

Kay Parkinson

Organisation: Alstrom Syndrome UK
Area of work: Ethical Legal Social Issues, Patient engagement

Visit the platform

Go to Genome-Phenome Analysis Platform

Go to Registry & Biobank Finder

Go to Sample Catalogue

See the Bioinformatic tools

Become a member

Newsletter Signup

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

Social

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

Quick links

  • 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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