About
Introduction to rare diseases
Structure
Executive Management Committee (EMC)
Scientific Advisory Board (SAB)
Patient Advisory Council (PAC)
Rare Disease Patient and Ethics Council (RD-PEC)
Panel for Biobank Assessment
Collaborations
What we do
Data linkage
FAIRification of rare disease registries
Linked data and ontology task force
Ontologies in rare disease registries
Omics data
Genome-Phenome Analysis Platform
Phenotypic 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
Response to the EU General Data Protection Regulation (GDPR)
Patient engagement
Resources
Newsletters
Scientific publications
Forms and guides
Presentations and flyers
Periodic activity reports
Glossary
For Patients and Families
News
Events
Contact
Coordination office
Contacts Directory
Organisations Directory
VISIT THE PLATFORM
Home
Glossary Item
Inherited
Inherited
RD-Connect
An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. Visit the platform:
Go to analysis platform
Go to registries and biobanks catalogue
Go to biosamples catalogue
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