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55 Result(s)

Funded by an IRDiRC member =

AUSTRALIA

Victoria
CARLTON

HVP - HUMAN VARIOME PROJECT: the global initiative to collect and curate all human genetic variation effecting human disease
  • Genomic Disorders Research Centre

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    AUSTRIA

    STEIERMARK
    GRAZ

    BBMRI: biobanking and biomolecular resources research infrastructure
  • Medizinische Universität Graz
  • Institut für Pathologie

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    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    European Organisation for Research and Treatment of Cancer (EORTC)
  • EORTC
  • European Organisation for the Research and Treatment of Cancer

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    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    LOVD software: a flexible, freely available tool to collect, share and display data on genes, variants and phenotypes
  • European Commission
  • DG Research - Directorate General for Research

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    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    Funded by an IRDiRC memberRD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research
  • European Commission
  • DG Research - Directorate General for Research

    • More details
    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations - ECARUCA
  • European Commission
  • DG Research - Directorate General for Research

    • More details
    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    European Sequencing and Genotyping Infrastructure - ESGI
  • European Commission
  • DG Research - Directorate General for Research

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    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    Funded by an IRDiRC memberCTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases
  • European Commission
  • DG Research - Directorate General for Research

    • More details
    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    Funded by an IRDiRC memberERINHA: European Research Infrastructure on Highly Pathogenic Agents
  • European Commission
  • DG Research - Directorate General for Research

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    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    Funded by an IRDiRC memberEuro-BioImaging
  • European Commission
  • DG Research - Directorate General for Research

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    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    Funded by an IRDiRC memberCTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases
  • European Commission
  • DG SANCO - Directorate General for Health and Consumer Affairs

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    CANADA

    Québec
    CHICOUTIMI

    BALSAC
  • Université du Québec à Chicoutimi
  • Projet BALSAC

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    CANADA

    Québec
    MONTRÉAL

    BALSAC
  • Centre hospitalier universitaire Sainte-Justine
  • Direction de la recherche

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    CANADA

    Québec
    QUÉBEC

    BALSAC
  • Ministère des Finances et de l'Économie (MFE)
  • Ministère du Développement économique, Innovation et exportation

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    FRANCE

    AUVERGNE-RHONE-ALPES
    LYON

    Funded by an IRDiRC memberERINHA: European Research Infrastructure on Highly Pathogenic Agents
  • Laboratoire P4 Inserm - Jean Mérieux

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    FRANCE

    AUVERGNE-RHONE-ALPES
    LYON

    Funded by an IRDiRC memberATLANTIC GENE THERAPIES
  • Myopathies.Info

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    FRANCE

    GRAND-EST
    ILLKIRCH-GRAFFENSTADEN

    Funded by an IRDiRC memberPHENOMIN: French National Infrastructure for Mouse Phenogenomics
  • Institut Clinique de la Souris

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    FRANCE

    GRAND-EST
    ILLKIRCH-GRAFFENSTADEN

    platform of integrative chemical biology of strasbourg (PCBIS)
  • Plate-forme de Chimie Biologique Intégrative de Strasbourg
  • Platform of integrative chemical biology of strasbourg

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    FRANCE

    HAUTS-DE-FRANCE
    LILLE

    APTEEUS: engaging patients in discovery
  • Faculté des Sciences Pharmaceutiques et Biologiques de Lille
  • APTEEUS: le patient au coeur de la découverte de son traitement

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    FRANCE

    ILE-DE-FRANCE
    EVRY

    Funded by an IRDiRC memberGENETHON
  • Association Française contre les Myopathies

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    FRANCE

    ILE-DE-FRANCE
    EVRY

    Funded by an IRDiRC memberATLANTIC GENE THERAPIES
  • Association Française contre les Myopathies

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    FRANCE

    ILE-DE-FRANCE
    EVRY

    Funded by an IRDiRC memberBIOTHERAPIES INSTITUTE
  • Association Française contre les Myopathies

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    FRANCE

    ILE-DE-FRANCE
    EVRY

    Funded by an IRDiRC memberI-STEM: Institute for Stem cell Therapy and Exploration of Monogenic diseases
  • Association Française contre les Myopathies

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    FRANCE

    ILE-DE-FRANCE
    EVRY

    High-throughput sequencing platform for the identification of human mutations
  • Institut de Génomique - Direction des Sciences du Vivant - CEA
  • Plateforme mutations

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    FRANCE

    ILE-DE-FRANCE
    PARIS

    Funded by an IRDiRC memberOrphanDev
  • ANR - Agence Nationale de la Recherche

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    FRANCE

    ILE-DE-FRANCE
    PARIS

    RaDiCo - Rare Diseases Cohort
  • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
  • Inserm U933

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    FRANCE

    ILE-DE-FRANCE
    PARIS

    ECRIN: European clinical research infrastructure network
  • Institut National de la Santé et de la Recherche Médicale

    • More details
    FRANCE

    ILE-DE-FRANCE
    PARIS

    Funded by an IRDiRC memberOrphanet
  • Institut National de la Santé et de la Recherche Médicale

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    FRANCE

    ILE-DE-FRANCE
    PARIS

    Funded by an IRDiRC memberI-STEM: Institute for Stem cell Therapy and Exploration of Monogenic diseases
  • Institut National de la Santé et de la Recherche Médicale

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    FRANCE

    ILE-DE-FRANCE
    PARIS

    Funded by an IRDiRC memberPHENOMIN: French National Infrastructure for Mouse Phenogenomics
  • Plateforme Maladies Rares
  • Fondation Maladies Rares

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    FRANCE

    ILE-DE-FRANCE
    PARIS

    Funded by an IRDiRC memberOrphanet
  • Plateforme Maladies Rares
  • INSERM, US14 - Orphanet

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    FRANCE

    PROVENCE-ALPES-COTE D'AZUR
    MARSEILLE

    Funded by an IRDiRC memberOrphanDev
  • Hôpital de la Timone
  • Service de Pharmacologie Clinique et de Pharmacovigilance

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    GERMANY

    Baden-Württemberg
    FREIBURG

    Funded by an IRDiRC memberCTSR: Care and Trial Site Registry for neuromuscular and neurodegenerative diseases
  • Zentrum für Kinder- und Jugendmedizin Freiburg
  • Klinik für Neuropädiatrie und Muskelerkrankungen

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    GERMANY

    Baden-Württemberg
    HEIDELBERG

    Funded by an IRDiRC memberEuro-BioImaging
  • EMBL Heidelberg
  • Imaging Infrastructure Strategy Development

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    GERMANY

    Bayern
    MÜNCHEN

    INFRAFRONTIER: infrastructure networks for large-scale and comprehensive phenotyping and archiving of mouse models
  • Helmholtz Zentrum München
  • Institut für Humangenetik

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    GERMANY

    Berlin
    BERLIN

    HPO: the Human Phenotype Ontology
  • Charité - Universitätsmedizin Berlin (CVK)
  • Institut für Medizinische Genetik und Humangenetik

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    GERMANY

    Berlin
    BERLIN

    EU-OPENSCREEN: a European infrastructure of screening platforms
  • Leibniz-Institut für Molekulare Pharmakologie
  • Netzwerkzentrale EU-OPENSCREEN

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    GERMANY

    Berlin
    BERLIN

    CHEMBIONET: resource network supporting academic chemical biology research
  • Leibniz-Institut für Molekulare Pharmakologie
  • Netzwerkzentrale EU-OPENSCREEN

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    GERMANY

    Berlin
    BERLIN

    European Sequencing and Genotyping Infrastructure - ESGI
  • Max-Planck-Institut für molekulare Genetik
  • European Sequencing and Genotyping Infrastructure

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    ITALY

    EMILIA ROMAGNA
    MODENA

    CIDSTEM - Interdepartmental Centre for Stem Cells and Regenerative Medicine
  • Università degli Studi di Modena e Reggio Emilia
  • Centro di Medicina Rigenerativa "Stefano Ferrari"

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    ITALY

    EMILIA ROMAGNA
    MODENA

    CIDSTEM - Interdepartmental Centre for Stem Cells and Regenerative Medicine
  • Università degli Studi di Modena e Reggio Emilia

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    NETHERLANDS

    Gelderland
    NIJMEGEN

    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations - ECARUCA
  • Radboudumc - Radboud universitair medisch centrum
  • Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen

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    NETHERLANDS

    Noord-Holland
    AMSTERDAM

    EATRIS: European advanced translational research infrastructure in medicine
  • EATRIS Headquarters
  • European advanced translational research infrastructure in medicine

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    NETHERLANDS

    Zuid-Holland
    LEIDEN

    LOVD software: a flexible, freely available tool to collect, share and display data on genes, variants and phenotypes
  • LUMC - Leids Universitair Medisch Centrum
  • Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica

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    SPAIN

    Madrid
    MADRID

    SEFALer: Laboratory Animals Phenotyping Network
  • ISCIII - Instituto de Salud Carlos III
  • Centro de Investigación Biomédica en Red

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    SPAIN

    Madrid
    MADRID

    SEFALer: Laboratory Animals Phenotyping Network
  • Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
  • Grupo/Laboratorio de Neurobiología de la Audición / Servicio de Evaluación Neurofuncional no Invasiva

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    UNITED KINGDOM

    Cambridgeshire
    CAMBRIDGE

    ELIXIR: European life sciences infrastructure for biological information
  • EBI - European Bioinformatics Institute

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    UNITED KINGDOM

    Cambridgeshire
    CAMBRIDGE

    EBI - European Bioinformatics Institute
  • EBI - European Bioinformatics Institute

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    UNITED KINGDOM

    Cambridgeshire
    HINXTON

    DECIPHER - database of chromosomal imbalance and phenotype in human using ensembl resources
  • Wellcome Trust Sanger Institute
  • DECIPHER

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    UNITED KINGDOM

    Greater Manchester
    MANCHESTER

    DMuDB: Diagnostic Mutation Database
  • St Mary's Hospital
  • National Genetics Reference Laboratory - Manchester

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    UNITED KINGDOM

    Leicestershire
    LEICESTER

    GEN2PHEN: genotype-to-phenotype databases: A holistic solution
  • Adrian Building
  • Department of Genetics

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    UNITED KINGDOM

    Merseyside
    LIVERPOOL

    COMET: Core Outcome Measures for Clinical Trials
  • Alder Hey Children's Hospital
  • Clinical Trials Research Centre

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    UNITED KINGDOM

    Oxfordshire
    OXFORD

    INSTRUCT: an integrated structural biology infrastructure for Europe
  • Henry Wellcome Building for Genomic Medicine
  • Division of Structural Biology

    • More details
    UNITED KINGDOM

    Tyne & Wear
    NEWCASTLE UPON TYNE

    Funded by an IRDiRC memberRD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research
  • Newcastle upon Tyne Hospitals NHS Trust
  • Institute of Genetic Medicine

    • More details
    UNITED STATES

    North Carolina
    DURHAM

    PhenXToolkit: consensus measures for Phenotypes and eXposures
  • RTI International

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    Help

    Help

    This screen gives access to a list of technologies and know-how of specific interest to researchers working on rare diseases. The list is sorted by country, region and city.

    The technologies and know-how which are registered with Orphanet are those of specific interest for the rare diseases research, and taking place in Europe and surrounding countries. The information which is displayed is provided by the manager of the technological platform or expert methodologists.

    The data is updated annually.

    Warning

    The data collection takes place in European and surrounding countries. Platforms funded by funding agencies outside of the Orphanet consortium are collected by the coordinating team if the funding agency is member of the IRDiRC consortium. The database cannot yet be regarded as comprehensive. If all technologies or know-how are not listed, it may be that we have not yet collected all the information, but it is also possible that the professional has refused to be listed.

    Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.

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