Table 1.
Directories including RD biobanks and registries
| Name | Focused on rare diseases? | Focus of directory | Coverage | Information available | URL | Reference |
|---|---|---|---|---|---|---|
| EuroBioBank | Yes | Biobank | Europe/International | Biospecimen collections, disease names, aggregated data (No. of samples), biobank contacts, country | http://www.eurobiobank.org/ | [28] |
| Telethon Network of Genetic Biobanks | Yes | Biobank | Italy | Biospecimen collections, disease names, number of patients, proband families, biobank contacts, metadata | http://biobanknetwork.telethon.it/ | [60] |
| BBMRI-ERIC | No | Biobank | Europe | Type of samples, metadata, biobank name, country, contact details | www.bbmri-eric.eu | [34] |
| NIH Rare Diseases Registry (RaDaR) Program (formerly Global Rare Disease Registry -GRDR) | Yes | Registry | USA | List of registries previously participating in the (GRDR) | https://ncats.nih.gov/radar | [24] |
| Parent | No | Registry | Europe | Registry name, country, primary purpose, affiliation (public/private), geographical coverage, primary observational unit, governing board, data sharing | http://patientregistries.eu/ror | [61] |
| NIH lists | No | Registry | USA | Name of the registry and URL with related information | https://www.nih.gov/health-information/nih-clinical-research-trials-you/list-registries | [62] |
| RoPR | No | Registry | USA | catalogue of registries:classification and purpose, contact and conditions of access, progress reports, common data elements | https://patientregistry.ahrq.gov/ | [63] |
| RD-Connect Registry & Biobank Finder | Yes | Biobank/Registry | International | catalogue of biobanks and registries: | http://catalogue.rd-connect.eu/ | [64] |
| biobank/registry name, country, affiliation, contact details, aggregated data (N. of cases/samples), metadata (study documents, CRF). | ||||||
| Orphanet | Yes | Biobank/Registry | International | biobank/registry name, country, affiliation (public/private), principal investigator, institution, contact details | http://www.orpha.net/consor/cgi-bin/ResearchTrials_RegistriesMaterials.php?lng=EN | [33] |
| P3G | No | Biobank/Registry | International | catalogue of biobanks including study description, networks, questionnaires, physical and cognitive measures, DNA processing and procedures to access. | http://www.p3gobservatory.org/catalogs.htm | [65] |
| ENGAGE | No | Biobank/Registry | International | Cohorts for which data and/or specimens can be made available | http://www.euengage.org/data%20access%20catalogue.html | [66] |