Database of shared samples…

…through deposition at biorepositories & omics data with associated phenotypic data via submission to databases & RD-Connect

 

Rare disease research area has a significant demand for the biological samples and associated phenotype and genomic information. Scarcity of the data and samples available for research purposes is well recognised obstacle on the way of translational research. RD-Connect offers a solution to this issue in a form of RD-Connect Registry and Biobank Finder tool. RD-Connect is a 6 years global infrastructure project initiated in November 2012 that links genomic data with patient registries, biobanks, and clinical bioinformatics tools to create a central research resource for RDs (1). The finder comprises aggregated up to date information on 62 000 biological samples available across 21 biobanks from more than 15 countries worldwide. The tool is easy to navigate and user friendly. The finder is also a portal to other RD-Connect tools, providing a link to the RD-Connect Sample Catalogue, a large inventory of RD biological samples available in participating biobanks for RD research.

Download the full document here

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern