Knowledge on rare diseases and orphan drugs

Orphanet’s budget was approximately 2.84 million Euros in 2018, originating from 8 different contracts for the core activity funding and from various other contracts in some of the participating countries.

Orphanet's core activity funding

Orphanet's core activities include the infrastructure, the coordination activities (management, management tools, quality control, rare disease inventory, classifications and production of the encyclopaedia) and communication. It excludes the collection of data on expert resources in the participating countries.

This budget (approx 1.6 million Euros) excludes the costs of infrastructure (office space) which are essentially covered by INSERM.

European funding

The European Commission funds the inventory of rare diseases, the encyclopaedia, and the collection of data on expert resources in European countries (since 2000, DG Health and Consumers Protection grant N°s S12.305098; S12.324970; SPC.2002269-2003220, 2006119, 20091215 and since 2004, DG Research and Innovation grant N°s LSSM-CT-2004-503246; LSHB-CT-2004-512148; LSHB-CT-2006-018933; Health-F2-2008-201230, HEALTH-F2-2009-223355, DG Santé grant 20133305-Operating Grant Orphanet and RD-ACTION Joint Action 677024 (2015-2018)). In 2014, the DG Santé grant 20102206 (Orphanet Europe Joint Action) was extended for one year without additional funding. In 2015, Orphanet participated in the ECRIN Integrating Activity (ECRIN-IA, 284395), funded by the European Union Framework Program 7. From 2016 Orphanet participates in the HIPBI-RD project (Erare Joint calls) and from 2018, Orphanet participates in the H2020 project Solve-RD (N° 779257).

Orphanet network is funded by the DG Santé grant RD-ACTION Joint Action 677024 (2015- May 2018) and the Orphanet Direct Grant 831390(2018-2020).

Financial partnerships for national activities

Orphanet’s national activities are also supported by national institutions, specific contracts and/or contributions in kind. In European countries, data collection at the national level is also supported by the European Commission. Globally this budget reaches 1.28 million Euros. Please refer to Figure below for an overview of funding of national activities.

Other current financial partnerships for core activity funding

	The “Institut National de la Santé et de la Recherche Médicale” finances Orphanet’s core activities. Inserm Transfert is in charge of supporting Orphanet in licensing its data and in providing advice concerning intellectual property.
	The French General for Health (DGS) co-finances Orphanet’s core activities and the collection of expert resources in France.
	The European Commission co-finances Orphanet’s core activities as well as the coordination, communication (including OrphaNews) and IT of the project through the EU Health Programme.
	The ”Caisse nationale de solidarité pour l'autonomie” supports the annotation of rare diseases with a controlled vocabulary derived from the International Classification of Functioning, Disability and Health (ICF) and the Orphanet encyclopaedia of disabilities.
	The 'Association Française contre les Myopathies' finances OrphaNews France and Orphanews Europe, as well as data collection on clinical trials and orphan drugs.

Current non financial partnerships for core activity funding

Non financial partners are those that provide services in kind and/or share their expertise for Orphanet core activities.

	Collaboration with the World Health Organisation (WHO) in the process of revising the International Classification of Diseases.
	Collaboration with the International Health Terminology Standards Development Organisation (IHT-SDO) is ongoing in order to include RD lacking in SNOMED-CT, and to provide alignments between ORPHA codes and SNOMED-CT terms
	Orphanet and EMBL-EBI have developed ORDO and in 2014, a new version of this ontology was launched (ORDO 2.0).
	Orphanet is the 30th bioinformatics structure of the French Institute of Bioinfomatics, which is the French node of ELIXIR
	Orphanet works with the Genetic and Rare Disease (GARD) Information Center, hosted by NIH-NCATS, in order to align their nomenclatures and improve the provision of textual information on rare diseases.
	Cross-referencing with Genatlas which collaborates in updating the data on genes involved in rare diseases.
	Cross-referencing with UniProt KB which collaborates in updating the data on genes linked to proteins involved in rare diseases.
	Cross-referencing with HGNC which collaborates in updating the data on genes involved in rare diseases.
	Cross-referencing with OMIM (The Online Mendelian Inheritance in Man). OMIM has added Orphanet to the list of external links provided on its website.
	Cross-referencing with Reactome.
	Cross-referencing with Ensembl.
	Cross-referencing with The International Union of Basic and Clinical Pharmacology DataBase (IUPHAR-DB).
	The LOVD (Leiden Open Variation Database) platform has been updated with links to Orphanet's gene pages.
	EuroGentest financed the creation of a thesaurus of clinical signs to harmonise international phenotype nomenclatures. (ICHPT) EuroGentest collaborates with Orphanet in the field of quality management of medical laboratories.
	Orphanet and RD-Connect share information on biobanks and patient registries. Orphanet provides RD-connect with nomenclature of RD.

Please refer to the Orphanet activity_report for detailed information on national partnerships in Orphanet member countries