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Orphanet
- 1. Orphanet a comprehensive information servicefor RD Inserm, US14 Ana Rath, Marc Hanauer ana.rath@inserm.fr
- 2. www.orpha.net Objectives • Have anoverall knowledge on what Orphanet is • How to access Orphanet tutorials • Know how to search by disease, by gene • Know how to find a centre of expertise, a patient organisation, information on research and drugs • Know how to find a collection of texts for a given disease
- 3. www.orpha.net The RD pyramid Awareness Knowledge Awareness Knowledge Diagnosticsuspicion? Knowledge Diagnostic suspicion Diagnosis Expertise Diagnostic suspicion Means to diagnose: NGS… Research Information Assistance to diagnosis Find an expert Phenotype-Genotype … Integrated ata for research
- 4. www.orpha.net What is Orphanet? •Orphanet is a knowledge base both for healthcare and for research. • Orphanet collects, integrates, produces and disseminates added-value information and data in the field of rare diseases. – expert-reviewed, – manually curated and – integrated to other resources. • Orphanet is the reference for the nomenclature and classification of rare diseases (the only specific resource) and has a normative role in this domain.
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- 6. www.orpha.net Give a nameto each disease : ORPHA nomenclature www.orphadata.org
- 7. www.orpha.net Orphanet European knowledgebase for RD
- 8. www.orpha.net Providing information Providing data Massiveagregated data in a computer-friendly format International, multilingual website Intended to a multi-stakeholders audience 0 50000 100000 150000 200000 250000 2012 2013 2014 2015 2016
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- 11. www.orpha.net Orphanet users 11US14-Orphanet 7mars 2018 Health professional 48% Patient/ family/ patient organisation 22% Research 3% Industry 2% Health care manager / policy maker 1% Education/ communication2 % Student 18% Other 4% Enquête 2018; n = 5131
- 12. www.orpha.net Orphanet provides informationand data to a global audience Orphanet Orphadata
- 13. www.orpha.net A common languageacross fields Orphanet central nomenclature Research Registries/Cohorts Care Health Information System (EHRs) HGNC OMIM UniProt Reactome Ensembl Genatlas IUPHAR OMIM ICD10/11 UMLS MedDRA Genes DisabilitiesPhenotypes SNOMED Terminologies OD ODrugs
- 14. www.orpha.net Different applications fordifferent users Orphanet database orpha.net Orphanet Report Series Ontologies orphadata.org
- 15. www.orpha.net Provide scientific andpolitical RD news
- 16. www.orpha.net Give timely emergencyrecommendations 37000 67000 200000 340000 390000 414000 405200 2010 2011 2012 2013 2014 2015 2016
- 17. 31/05/2017 17 Orphanet Disabilities Provideinformation to health-social sector
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- 20. www.orpha.net DEMO Orphanet at theservice of healthcare and research