Orphanet UK: Ensuring quality of information

Orphanet is the largest online resource for rare diseases and orphan drugsfor all audiences. It provides free and direct online access to the most comprehensiveclassification for rare diseases, an ?assistance to diagnosis? tool,the EUCERD?s newsletter, thematic studies and reports and updated informationabout rare diseases and specialised services in around 40 countries.Orphanet UK (www.orphanet.co.uk) has been operational since 2005. Todate it lists >300 expert centres, 125 laboratories, >300 patient organisations,>130 patient/mutation registries and >580 research projects and clinicaltrials.Orphanet has established strong quality standards over the years consideringthe different situations of the countries part of the consortium. Thereare defined inclusion criteria for each activity.Information is collected from official sources specific to each country. Oncepublished data will be checked annually by post-validators, who are professionalsworking in the field of rare diseases with expert knowledge inthe relevant activity. Orphanet UK has established several partnerships topost-validate its information. Rare Disease UK and Genetic Alliance validatepatient organisations. ERNDIM validates EQA accredited metabolic laboratoriesin the UK. UK centres of expertise are validated by experts that arepart of the EUCERD and research activities are validated by relevant patientorganisations. Orphanet UK is also working to establish new partnerships tovalidate data about molecular and cytogenetic laboratories and data aboutclinical trials too. Every effort will be made to ensure that information isaccurate, comprehensive and up to date.