The launch of the Sample Catalogue!
A new and unique tool to help researchers 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. In the case of rare diseases, the scarcity of patients, who are scattered across the world, makes having biosamples available for reuse particularly important.
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 at its new URL https://samples.rd-connect.eu/ and is free of charge.
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.
What makes the RD-Connect Sample Catalogue unique?
The Sample Catalogue 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.
The behind-the-scenes 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 one of the three key tools developed by RD-Connect, next to the Genome-Phenome Analysis Platform and the Registry & Biobank Finder. The 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.