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40 Result(s)

Funded by an IRDiRC member =

    25 Research projects; 15 Multicentric Research projects

    Research projects

    • Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Belgian Medical Genomics Initiative (BeMGI)
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Funded by an IRDiRC member
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • Children's Hospital of Eastern Ontario
    • Newborn Screening Ontario
    • More details
    • CANADA
    • Ontario
    • OTTAWA
    • Funded by an IRDiRC member
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • University of Ottawa
    • Department of Epidemiology and Community Medicine
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Genetic Basis of Dystonia in Turkish families
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Abteilung für Neurodegeneration mit Schwerpunkt neurodegenerative Erkrankungen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Genetic Basis of Dystonia in Turkish families
    • Institut für Medizinische Genetik und angewandte Genomik Tübingen
    • Institut für Medizinische Genetik und angewandte Genomik
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • DYSTRACT: Network on research and management of rare dystonia (coordination)
    • Neurologische Klinik und Poliklinik des Universitätsklinikums Würzburg
    • Neurologische Klinik und Poliklinik
    • More details
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Funded by an IRDiRC member
    • DYSTRACT: Genetic fingerprints of oscillatory network activity in dystonia
    • Charité - Universitätsmedizin Berlin (CVK)
    • Arbeitsgruppe für Bewegungsstörungen am Campus Virchow Klinikum
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Funded by an IRDiRC member
    • DYSTRACT: IT platform for the Dystonia Translational Research and Therapy Consortium
    • Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
    • Kompetenznetz Parkinson - Netzwerk Sekretariat
    • More details
    • GERMANY
    • Hessen
    • MARBURG
    • Phenotypic spectrum and molecular characterization of Movement disorders
    • Universität Lübeck
    • Institut für Neurogenetik
    • More details
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Funded by an IRDiRC member
    • DYSTRACT: Elucidation of novel genetic causes and modifiers for dystonia
    • Universität Lübeck
    • Institut für Neurogenetik
    • More details
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Funded by an IRDiRC member
    • DYSTRACT: Modeling dystonia in an endogenous human cellular system: Platform and characterization of iPS derived neurons from patients with monogenic isolated dystonia
    • Universität Lübeck
    • Institut für Neurogenetik
    • More details
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Funded by an IRDiRC member
    • DYSTRACT: Defining motor system endophenotypes in dystonia using a multimodal neurophysiology and structural imaging approach
    • Universität Lübeck
    • Institut für Neurogenetik
    • More details
    • GERMANY
    • Schleswig-Holstein
    • LÜBECK
    • Funded by an IRDiRC member
    • Towards better AAV gene therapy: whole genome sirna and microrna high throughput screening for the identification of the molecular determinants governing AAV vector transduction, vector production and vector-induced gene correction
    • Università degli Studi di Trieste
    • Dipartimento di Scienze Mediche, Chirurgiche e della Salute
    • More details
    • ITALY
    • FRIULI VENEZIA GIULIA
    • TRIESTE
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • New technologies and new strategies for neonatal screening
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Laboratorio per lo Studio degli Errori Congeniti del Metabolismo
    • More details
    • ITALY
    • LIGURIA
    • GENOVA
    • Funded by an IRDiRC member
    • Study of improving Safety of Lentiviral Gene Transfer
    • IRCCS Ospedale San Raffaele
    • Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Cell therapy strategies for tolerance induction in humans
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Istituto San Raffaele Telethon per la Terapia Genica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Gene therapy strategies for Antigen-specific tolerance induction in vivo
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Inborn errors of endocrinology and metabolism
    • Karolinska Institutet - Solna
    • Department of Molecular Medicine and Surgery
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Funded by an IRDiRC member
    • Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • Funded by an IRDiRC member
    • The etiology of inherited neurological diseases
    • Phoenix Children's Hospital
    • Barrow Neurological Institute
    • More details
    • UNITED STATES
    • Arizona
    • PHOENIX
  • Multicentric Research projects

    • Maternal Infant Child and Youth Research Network (MICYRN)
    • University of British Columbia
    • Maternal Infant Child and Youth Research Network
    • More details
    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • CIMDRN- Canadian Inherited Metabolic Diseases Research Network
    • University of Ottawa
    • Faculty of Medicine -
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • Réseau national des dystonies
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Equipe Pathologies du Mouvement
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Réseau Sud-Ouest des erreurs innées du métabolisme
    • CHU de Toulouse - Hôpital Purpan
    • Laboratoire de biochimie
    • More details
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • BNE: BrainNet Europe II: European brain tissue bank
    • Zentrum für Neuropathologie und Prionforschung (ZNP)
    • Zentrum für Neuropathologie und Prionforschung der LMU München
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • DYSTRACT: Network on research and management of rare dystonia
    • Neurologische Klinik und Poliklinik des Universitätsklinikums Würzburg
    • Neurologische Klinik und Poliklinik
    • More details
    • GERMANY
    • Bayern
    • WÜRZBURG
    • Funded by an IRDiRC member
    • InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
    • HSK, Dr. Horst Schmidt Kliniken GmbH
    • Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
    • More details
    • GERMANY
    • Hessen
    • WIESBADEN
    • UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • European network for the study of dystonia syndromes
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • Neurologia I
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Funded by an IRDiRC member
    • TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
    • Oxford University Begbroke Science Park
    • Zyoxel Limited
    • More details
    • UNITED KINGDOM
    • Oxfordshire
    • BEGBROKE
    • ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • MetBioNet - National Metabolic Biochemistry Network
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
    • St James's University Hospital
    • Department of Biochemical Genetics
    • More details
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS