Orphanet:

Over Orphanet Orphanet funding Orphanet national websites OrphaNetWork Directe Subsidie

Het budget van Orphanet bedroeg ongeveer 2,84 miljoen Euro in 2018, afkomstig van 8 verschillende contracten voor de financiering van kernactiviteiten en verscheidene andere contracten in enkele van de deelnemende landen.

Financiering van de kernactiviteiten van Orphanet

De kernactiviteiten van Orphanet omvatten de infrastructuur, de coördinerende activiteiten (management, beleidsinstrumenten, kwaliteitscontrole, inventaris, classificaties, wetenschappelijke annotaties en productie van de encyclopedie van zeldzame ziekten, SMQ) en communicatie. Het verzamelen van gegevens over gespecialiseerde diensten in de deelnemende landen valt hier niet onder.

Dit budget (ongeveer 1,6 miljoen Euro) omvat niet de kosten van infrastructuur (bureauruimte) die feitelijk worden gedekt door INSERM.

Europese financiering

De Europese Commissie financiert de inventaris van zeldzame ziekten, de encyclopedie, en de verzameling van gegevens over gespecialiseerde diensten in Europese landen (sinds 2000, DG Health and Consumers Protection grant N°s S12.305098; S12.324970; SPC.2002269-2003220, 2006119, 20091215 en sinds 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). In 2014 werd de subsidie DG Santé grant 20102206 (Orphanet Europe Joint Action) verlengd voor één jaar zonder bijkomende financiering.

In 2015 nam Orphanet deel aan de ECRIN Integrating Activity (ECRIN-IA, 284395), gefinancierd door het Framework Program 7 van de Europese Unie. Sinds 2016 neemt Orphanet deel aan het HIPBI-RD project (Erare Joint calls), en sinds 2018 is Orphanet actief in het H2020 project Solve-RD (N° 779257).

Het Orphanet netwerk wordt gefinancierd door DG Santé grant RD-ACTION Joint Action 677024 (2015-mei 2018) en Orphanet Direct Grant 831390 (2018-2020).

Financiële en niet-financiële samenwerkingen voor nationale activiteiten

De nationale activiteiten van Orphanet worden ook ondersteund door nationale instellingen, specifieke contracten en/of bijdragen in natura. In Europese landen wordt het verzamelen van gegevens op nationaal niveau ook ondersteund door de Europese Commissie. In zijn geheel bedraagt dit budget 1,28 miljoen Euro. Gelieve Figuur te raadplegen voor een overzicht van de financiering van nationale activiteiten.

img Financial partnerships for 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.