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Orphanet

Orphanet is the European Commission funded portal offering information and specific services for genetic and other rare diseases. It is freely available in English, French, German, Italian, Portuguese and Spanish. The network involves a consortium of 35 countries across Europe and beyond, with Nowgen as the base for the UK team.


Orphanet seeks to contribute to improving the diagnosis, treatment and management of patients suffering from rare diseases. Our work aims to accelerate the development of research, reinforce the participation of concerned rare disease stakeholders, and improve existing resources.

Orphanet offers a rare disease listing of over 5000 diseases, of which more than 1500 feature encyclopaedia entries. Entries for the encyclopaedia are produced by international experts in the field and validated by an editorial committee.

Orphanet also features a directory of services which contains more than 25,000 rare disease-related activities ongoing in the 35 countries. This directory provides information on specialised consultations and centres of reference, clinical laboratories, research projects, clinical trials, professional networks, disease registries and patient support organisations.

Publications

Gillaspy EE, Ayme S, Donnai D. Orphanet: What’s in it for you? UK case studies. (562kb) European Journal of Human Genetics 2008 (in press).

Gillaspy EE, Ayme S, Donnai D. The ORPHANET Database: A Free Online Tool for Molecular Geneticists and Cytogeneticists. (4660kb) 21st Sping Meeting of the Clinical Molecular Genetics Society in conjunction with the Association for Clinical Cytogenetics. Liverpool, April 2008.

Aymé S, Dallapiccola B and Donnai D (2006) Orphanet journal of rare diseases: launch editorial. Orphanet J Rare Dis 1, p1.