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The ORPHANET Database: A Free Online Tool for Molecular Geneticists & Cytogeneticists

The ORPHANET Database: A Free Online Tool for Molecular Geneticists & Cytogeneticists. Emma Gillaspy 0161 276 3203 emma.gillaspy@cmmc.nhs.uk Contact for Orphanet UK & Ireland. What is Orphanet?. Comprehensive European portal on rare diseases & orphan drugs Condition information

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The ORPHANET Database: A Free Online Tool for Molecular Geneticists & Cytogeneticists

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  1. The ORPHANET Database: A Free Online Tool for Molecular Geneticists & Cytogeneticists Emma Gillaspy 0161 276 3203 emma.gillaspy@cmmc.nhs.uk Contact for Orphanet UK & Ireland

  2. 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.)

  3. 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

  4. 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

  5. Basic Graphics Sophisticated Website

  6. 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

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

  8. 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)

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

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