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Search by disease/gene

Search by disease/gene

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  • This screen gives access to a list of research projects through a query by disease name or gene name. You can restrict your search to a specific country.
  • Enter your requested disease name or gene name in the query zone and click OK to validate. You may use truncated names. A list of all diseases or of all genes matching your query will appear. You must select the one of interest to you in order to obtain a list of research projects concerning this disease or this gene.
  • Other search options: you may search by additional options if you prefer. Please try different search options to find the one most appropriate for your needs.

Research projects registered with Orphanet are those which are supported by a grant from official research institutions at national or European level, or by NGOs after a peer-review process.

The data is updated annually.

::Warning

The data collection takes place in European and surrounding countries and is currently ongoing. 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.

Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. 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.