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Eurordis - Rare Disease Europe

17/01/2022

Lesson 4: Orphanet, a comprehensive information service for rare diseases


Expert: Ana Rath
Orphanet, France

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Ana Rath
Orphanet, France

Ana Rath is the Director of INSERM, US14 – Orphanet. Ana is a medical doctor, and coordinates the global Orphanet network and the production of the Orphanet nomenclature, ontology and database. She coordinates the EU RD-CODE project that aims to promote the improved codification of RD, she leads Pillar 2 of the European Joint Programme Co-Fund on RD, and a work package in the EU Solve-RD project. She has previously coordinated the RD-Action, an EU Joint Action bridging data and policies for RD, and coordinated the Scientific Secretariat of the International Rare Disease Research Consortium.

 

Orphanet is the reference portal for information and documentation on rare diseases and orphan drugs. Orphanet provides freely available, user-friendly Web-based access to medically validated, comprehensive information, thus improving knowledge and contributing to the accurate, diagnosis and appropriate care and treatment of patients with rare diseases.

Orphanet was originally established in 1997 by the French Ministry of Health and the French National Institute of Health and Medical Research (Institut National de la Santé et de la Recherche Médicale, INSERM) as a pilot project. Today, it is a broad partnership of public and private institutions.

Orphanet is run by a consortium of European partners. The coordination team, located in Paris, is in charge of the infrastructure and produces content for the free access portal including:
• Inventory of over 6,000 RD cross-referenced with other nomenclature systems
• Online encyclopedia for over 3,000 diseases
• Hierarchical disease classification system (according to literature or established in-house)
• Unique and stable Orpha number, to code each disease in the database
• Search facility by clinical signs and symptoms
• Inventory of drugs for rare diseases
• Emergency and clinical guidelines for rare diseases

 

Video presentation
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