Publishing rare disease registries in the RD-Connect Catalogue

One main goal in RD Connect is the creation of a centralised, searchable catalogue of existing resources (biobanks and registries including mutation databases), in order to promote data sharing among rare disease researchers.

The catalogue is made up of synthetic descriptions, called “ID-Cards“, of existing registries. ID-Cards display basic information on registries and are organised into 5 main sections:

• general overview and organisation,
• diseases collected,
• standards and procedures,
• accessibility of data,
• study documents (study protocol, case report form, informed consent template, data access agreement).

The RD-Connect catalogue aims to increase the integration of registries and to promote the exchange of data with the wider rare disesae community.

Networking capabilities will be improved by an internal system of alerts and reporting that brings together biobanks and registries working on the same group of diseases, by allowing them to view and to be viewed by their “partner” biobanks and/or registries, keeping all informed on their updates to the system (change in the dataset, relevant documents), on the new cases included, and on other activities as well (publications, training and meeting events).

RD-Connect online catalogue of registries and biobanks – a user guide 

Disease matrix overview