1. RD-Connect ID-Cards of biobanks and registries: making RD data Findable, Accessible, Interoperable and Reusable
1Torreri P., 1Gainotti S., 1De Paulis F., 1Kodra Y., 1Carta C., 2Wang CM., 2Monaco L., 3Reihs R., 3Mueller H., 1Taruscio D.
(1) Istituto Superiore di Sanità, Rome, Italy; (2) Fondazione Telethon, Milan, Italy; (3) Medical University of Graz, Graz, Austria
Data on Rare Disease (RD) patients, including registry data and availability of bioresources, are collected and stored in different biobanks and databases, and they are usually not easily Findable, Accessible, Interoperable and Reusable (FAIR). The RD-Connect ID-Cards ( aims at concentrating sparse information on RD patients in one unique source by showing the number of samples/cases included in biobanks and registries, providing a first gateway towards more intense data sharing, and increasing the integration of biobanks and registries.
Methods
Each ID-Card consists in a webpage with information on a biobank or registry, including contact information, aggregated data and metadata data such as accessibility and standards for the resources, standard operating procedures, documents for the informed consent, case report form.
Importantly, the “disease matrix” (DM) section provides information on the number of patient cases or biological samples held for each RD, with its associated Orphacode, OMIM and ICD10 codes.
Results
Currently RD-Connect ID-Cards is populated with aggregated data for more than 170 registries and 14 biobanks, including more than cases.
Registries from all countries worldwide are participating, with a strong contribution from USA, followed by Italian, French, German, Spanish and UK registries and most of them belong to a network of registries; National programs or platforms. ID-Cards from EuroBioBank members are included, and their biosample collection data are being imported to the RD-Connect Sample Catalogue.
Interestingly, the most prevalent group of diseases represented in the registries and biobanks is rare neuromuscular and neurological disorders.