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Published on: August 15, 2019
[Orphanet: a European database for rare diseases]
S S Weinreich1, R Mangon, J J Sikkens
1VU Medisch Centrum, afd. Klinische Genetica, sectie Community Genetics/EMGO Instituut, BS7 D424, Postbus 7057, 1007 MB Amsterdam.
Nederlands Tijdschrift Voor Geneeskunde
|April 9, 2008
Summary
Orphanet provides a comprehensive European database for rare diseases and orphan drugs. It offers resources for patients, families, health professionals, and researchers, improving rare disease management and treatment.
Area of Science:
- Medical Informatics
- Rare Disease Research
- Public Health Initiatives
Context:
- Rare diseases collectively affect a significant portion of the population.
- Effective management and treatment require centralized, accessible information.
- European collaboration is crucial for addressing rare diseases.
Purpose:
- To establish a unified European platform for rare disease and orphan drug information.
- To facilitate access to data for patients, families, healthcare providers, and researchers.
- To support the improvement of rare disease care through comprehensive resources.
Summary:
- Orphanet is a European initiative featuring a dedicated database on rare diseases and orphan drugs.
- The platform offers tailored services for diverse user groups, including patients, families, health professionals, and researchers.
- Website access (www.orpha.net) enables advanced searches for research projects, support groups, and clinical signs.
Impact:
- Enhances the management and treatment of rare diseases across Europe.
- Empowers patients and families with accessible information and support networks.
- Facilitates research and clinical practice by providing a centralized knowledge base for health professionals.
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