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Orphanet provides information on ongoing and unpublished research projects explicitly focused on a rare disease or on a group of rare diseases and funded by a funding body with a scientific committee performing a competitive selection of research projects, or issued from the regular national research funding. Single-centre and national or international multicentric research projects are registered.
Enter your requested disease name or gene name/symbol to access this information.
The results can be sorted either geographically (by country, region and city, in alphabetical order), or by specificity (from those more focused on a particular disease to those specialised in a group of diseases including the disease you were looking for).
You can access related Orphanet datasets in an aggregated format through Orphadata after signature of a Data Transfer Agreement/Service Contract.
Warning
The data collection takes place in Orphanet consortium countries and is currently ongoing. Research related resources (research projects, clinical trials, patient registries, biobanks and Variant databases) are also registered in Orphanet database if they are funded by a member agency of the International Rare Diseases Research Consortium (IRDiRC, list of members available here) located in a country for which there is no Orphanet national team.
The database cannot yet be regarded as comprehensive. If no research project is listed for a disease, a group of diseases or a gene, it may be that there is no ongoing research activity, or that we have not yet collected the information, but it is also possible that the researcher has refused to be listed.
Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.