Orphanet UK 2011: More information, more specific and easier to retrieve

I. Gomez-Paramio, [Unknown] Sainz, [Unknown] G., S. Ayme, H. Middleton-Price, D. Donnai

    Research output: Contribution to conferencePoster

    Abstract

    Orphanet is the largest international online portal for rare diseases and orphan drugs. Orphanet lists services for around 6,000 rare diseases in 36 countries. Among these services there are over 21,000 medical laboratory tests, 1,200 clinical trials, 1,000 registries and 4,900 expert centres. Information regarding the UK has grown strongly over the last two years. Today there are over 70% more clinical trials, 45% more registries and biobanks, over 50% more medical diagnostic tests and 30 % more clinics. Relevant information is highlighted and retrievable; from over 170 clinical trials available, 80% are ongoing and over 50% are recruiting participants. There are also over 80 registries and biobanks from which 25% are recruiting. Laboratories with accreditations are highlighted. Designated centres of expertise display the Reference Centre label. All these services can be searched by disease or by gene. Moreover, research activities can also be retrieved by type, by institution/laboratory, by professionals, by sponsor/funding body and by substance/tradename (clinical trials). Diagnostic test can be filtered by city or type of accreditation and clinics by type of service (medical management/genetic counselling and paediatric/adult clinic). The webpage has also improved its user friendliness with the addition of two new features: the “google translational tool” that allows the user to translate any page in different languages and the “autocompletion tool” that facilitates research by providing suggestions as terms are entered. Moreover, a new website for the UK has been created to offer national relevant information for patient and professionals.
    Original languageEnglish
    Publication statusPublished - 29 May 2011
    EventEuropean Society of Human Genetics Conference - Amsterdam, The Netherlands
    Duration: 28 May 201131 May 2011

    Conference

    ConferenceEuropean Society of Human Genetics Conference
    CityAmsterdam, The Netherlands
    Period28/05/1131/05/11

    Keywords

    • Orphanet
    • Rare Disease
    • Clinical Genetics

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