Generation of a comprehensive, searchable, online catalogue for high quality human rare disease biomaterials
Having access to high quality human biosamples (such as DNA or blood samples) is necessary for successful rare disease research. Biosamples help researchers study the underlying mechanisms of rare diseases, develop new diagnostic techniques and identify potential therapeutic targets. They also allow researchers to monitor patients’ responses to novel treatments.
Within RD-Connect, a new online Sample Catalogue for rare disease biomaterials (currently being developed) will form part of the general RD-Connect Online Platform. The Sample Database contains information about a range of biomaterials such as primary cells, tissue, DNA, serum, RNA and cell lines.
Collectively, the RD-Connect ID-Cards and the Sample Catalogue facilitate the accessibility of biosamples and data from rare disease patients across Europe to the scientific community in an internationally coordinated manner. In addition, the platform offers biobanks streamlined workflow and training material for Standard Operation Procedures. It also addresses the requirement for essential data elements in the Informed Consent for protection of patient rights, and return of research results to the patient as well as policies involved in “incidental findings”.
We invite all rare disease biobanks to join in this effort by making their sample collection available via RD-Connect. Further information how to join is available in the following sections. Planned milestones and progresses concerning biobanking are illustrated in the figure below.