ID-Cards: linking up rare disease research across the world

The RD-Connect online catalogue is made up of a collection of existing databases, registries and biobanks called ID-Cards.

RD-Connect ID-Cards display basic information about databases, registries and biobanks and are organised into five sections:

1. General overview and organisation

2. Diseases collected

3. Standards and procedures

4. Accessibility of data

5. Study documents e.g. study protocol, case report form, informed consent template and data access agreement.

The ‘Diseases collected’ section contains a “disease matrix” which lists the ORPHAcodes, OMIM numbers and synonyms for every disease. It also provides the number of registered cases or samples available within a database, registry or biobank. This section will be continually updated by the database curators to ensure information is current and accurate.

In order to be constantly updated, the catalogue team is studying the way to connect the ID-Cards system with existing ontologies like Orphanet, OMIM and the HPO, and to integrate its activities inside the wider RD-Connect platform.