RD-Connect Sample Catalogue: the tool to find rare biosamples

Biological samples such as blood and DNA, provided by patients and stored in biobanks, are valuable material that can be used for future research, e.g. identifying disease biomarkers – indicators of a physiological state that can be used for diagnosis, research into disease mechanisms and validation of pre-clinical therapies. Making biosamples available for reuse is particularly important in case of rare diseases, where due to the scarcity of patients also the samples are rare and scattered across countries.

To solve this problem, the EU-funded project RD-Connect has recently launched the Sample Catalogue, which allows researchers to find biological samples from rare disease patients for research purposes. It is also a tool for rare disease biobanks to ensure the biological samples they hold are accessible for research and are adequately represented. The Sample Catalogue is open and available to all users free of charge.

What makes the RD-Connect Sample Catalogue unique is that it provides detailed information about individual biosamples, including not only the disease, sample type, sex and availability of genetic and registry data, but also diagnosis type, and availability of samples from the patient’s family members. In the current release of the RD-Connect Sample Catalogue, users can browse sample collections using powerful filtering functions and search via disease names or codes.

Currently, the Sample Catalogue includes 7352 biological samples associated with 90 rare diseases, and an additional 25000 samples in the tool staging area are to be published shortly. These biological samples are stored in the biobanks of the EuroBioBank Network.

The behind-the-scene development work on the Sample Catalogue will continue into 2018, including the implementation of BBMRI-ERIC Negotiator, a tool allowing researchers to quickly make and refine requests for specific biosamples to the biobanks holding samples of interest. The Sample Catalogue is built in compliance with MIABIS 2.0 data model, and aims to be fully implement linked data and FAIR principles (FAIR = Findable, Accessible, Interoperable, Reusable).

The Sample Catalogue is one of the three key tools developed by RD-Connect, in addition to the Genome-Phenome Analysis Platform and the Registry & Biobank Finder. Work is ongoing to make all three tools interconnected. The connection of the Sample Catalogue with the Genome-Phenome Analysis Platform will allow researchers to find biosamples from patients with a specific genetic defect, while the connection with the Registry & Biobank Finder will let them easily find biobanks and access information about their sample collections.

To support biobank data managers in uploading sample data into the Sample Catalogue, RD-Connect has published the user guide for biobankers and organised a training webinar for biobank managers on the 24th of January.

(Source: OrphaNews Feb 9, 2018)