Orphanet 
Orphanet is the European Commission funded portal offering information and specialised services for genetic and other rare diseases.
It is freely available in English, French, Spanish, German, Italian, Portuguese. The network involves a consortium of around 40 countries across Europe and beyond, with Nowgen as the base for the UK and Ireland 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 range of freely accessible services for all stakeholders: patients and their families, healthcare providers, researchers, industry professionals and policy makers.
The Orphanet Directory of Rare Diseases lists over 5900 diseases, of which more than 2800 feature encyclopaedia entries. The classification is elaborated using exisitng published expert classifications. The Orphanet Encyclopaedia is a comprehensive collection of review articles on rare diseases. It is an author-based, peer-reviewed online publication. All articles are written in English. The summaries are progressively translated into the 5 other languages of the website: French, Spanish, German, Italian and Portuguese.
The Orphanet Directory of Services contains around 30,000 rare disease-related activities ongoing in the 36 countries. This directory provides information on specialised clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks and patient organisations in the field of rare diseases, in each of the countries in Orphanet's network.
The Orphanet Directory of Orphan Drugs provides information about drugs with an orphan designation and/or marketing authorisation in Europe, USA, Japan or Australia.
The portal gives also access to an assitance-to-diagnosis tool allowing users to search by signs and symptons.
OrphaNews Europe is the bi-monthly electronic newsletter of the EU Committee of Experts on Rare Diseases. Each issue reports news on rare diseases and orphan drugs in Europe: research, EU, national and international policy, disease surveillance, orphan drug approvals, funding opportunities, news from the patient organisations, events, etc. Registration is free of charge.
The Orphanet Reports Series is a collection of thematic reports, focussing on overarching themes, directly downloadable from the website.
The Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews on specific rare diseases.
UK Investigators
Professor Dian DonnaiDr Helen Middleton-Price
Dr Idoia Gomez-Paramio
Funding Body
Publications
I. Gomez-Paramio: “A new Orphanet team for the UK and Ireland”, British Society of Human Genetics Newsletter (Issue 41 p8), June 2009
I. Gomez-Paramio, S. Ayme, H. Middleton-Price, D. Donnai: “Orphanet UK & Ireland, a growing Rare Disease resource”, European Journal of Human Genetics, Volume 17, Supplement 1, May 2009
Gillaspy EE, Ayme S, Donnai D. Orphanet: What’s in it for you? UK case studies. (562kb) European Journal of Human Genetics 2008.
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.
Additional Links
EC Rare disease siteEJHG Practical Genetics Series; monthly articles for genetics clinicians.
