New collaboration between Orphanet and NIH-NCATS Genetic and Rare Disease Information Center
In 2016 a partnership was formally established between Orphanet (www.orpha.net), the rare disease and orphan drug database, and the Genetic and Rare Disease Information Center (GARD) (https://rarediseases.info.nih.gov/), hosted by the United States' National Institutes of Health – National Center for Advancing Translation Sciences (NIH-NCATS). The GARD is a program of the NCATS and is funded by two parts of the NIH: NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
The aim of this partnership is to mutualise efforts so as to provide the audiences of both sites with the most complete and up-to-date information on rare diseases.
In a first step, the Orphanet and GARD nomenclatures are being aligned, so as to allow cross-referencing between the two resources. Links to GARD pages from Orphanet disease pages are already implemented for a number of diseases. In a second step, summary texts from Orphanet (along with a link to the relevant Orphanet disease page and the Orphanet logo) are being included in GARD for the diseases for which GARD does not have a text.
This cross-Atlantic partnership will improve the visibility of Orphanet in the United States, and GARD resources in Europe, and is just one of the ongoing efforts to integrate the Orphanet nomenclature, in particular, into the different rare disease-related resources maintained by the NIH (e.g. UMLS, ClinVar, MedGen, GTR).
