The ORPHANET Database: A Free Online Tool for Molecular Geneticists & Cytogeneticists Emma Gillaspy Contact for Orphanet UK & Ireland

What is Orphanet? Comprehensive European portal on rare diseases & orphan drugs Condition information –Over 5000 diseases –Short disease descriptions –Links to more information (review articles, PubMed publications etc.) Directory of activities across Europe for: –specialised outpatient clinics –diagnostic testing EVERY CMGS lab test now listed 6 ACC labs listed all UK and IE metabolic biochemistry labs coming soon –research projects –clinical trials –professional networks –disease registries –patient support groups Other services (newsletters, peer reviewed journal etc.)

Who are Orphanet? Publicly funded - French Ministry of Health, European Commission and others Run by teams in 35 countries National teams: –collect data for the directory of services –add data to the Orphanet website –validate data annually

Who Uses Orphanet? 20,000 daily users 170 countries 50% health professionals 35% patients and families 15% teachers, students and journalists What is a Rare Disease? Prevalence < 1 in 2,000 ~80% rare diseases are genetic 30 million Europeans 4 million UK patients 5 new diseases per week

Basic Graphics Sophisticated Website

New Features – Diseases More flexible search facility An identity card for each disease Links to scientific news Links to review articles and the EJHG practical genetics series Links to Orphanet articles: –public encyclopaedia –emergency guidelines –clinical practice guidelines Links to other databases: –OMIM –Swissprot –Geneatlas –Genetests

More flexible search facility Additional contacts –lab director –link to website –secretary Type of testing –molecular genetics –cytogenetics etc. Quality information –quality manager –EQA schemes –accreditation/certification –links to Eurogentest & ERNDIM New Features – Diagnostic Testing

Additional features: Patient support organisations Clinics Orphan drugs In the future: Expert resources including technological platforms, databases, biobanks and animal models OrphaSchool, online interactive tutorials on various aspects of genetic and rare diseases (currently being piloted in French)

Dian Donnai (UK & IE Principal Investigator) Ségolène Ayme (Orphanet Director) Nowgen Orphanet partners European Commission Everyone who has registered with us! Acknowledgements