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38 Result(s)

Funded by an IRDiRC member =

    24 Research projects; 14 Multicentric Research projects

    Research projects

    • Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Belgian Medical Genomics Initiative (BeMGI)
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • 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
    • NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
    • Généthon
    • Généthon - Banque d'ADN et de cellules
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • EVRY
    • NMD-CHIP: chip design, synthesis and technical validation for known genes involved in neuromuscular diseases (WP2)
    • CHU de Marseille - Hôpital de la Timone
    • Laboratoire de génétique moléculaire
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Calsequestrins in calcium homeostasis and potential role in inherited human skeletal muscle diseases
    • Università degli Studi "G. D'Annunzio"
    • Dipartimento di Scienze Mediche Applicate e di Base
    • More details
    • ITALY
    • ABRUZZO
    • CHIETI SCALO
    • Funded by an IRDiRC member
    • Altered calcium handling in Central Core Disease and Malignant Hyperthermia: understand molecular mechanisms and genetic background to develop innovative therapeutic interventions
    • Università degli Studi "G. D'Annunzio"
    • Dipartimento di Scienze Mediche Applicate e di Base
    • More details
    • ITALY
    • ABRUZZO
    • CHIETI SCALO
    • Molecular pathology of ryanodine receptor mutants linked to central core disease and malignant hyperthermia
    • Università degli Studi di Ferrara
    • Dipartimento di Medicina Sperimentale e Diagnostica
    • More details
    • ITALY
    • EMILIA ROMAGNA
    • FERRARA
    • 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
    • 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
    • Clinical morphological and molecular study of italian patients with congenital myopathy
    • Università degli Studi di Pavia
    • Dipartimento di Genetica e Microbiologia
    • More details
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Validation of a neuromuscular individualized quality of life measure in Italy
    • IRCCS Policlinico San Donato
    • U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
    • More details
    • ITALY
    • LOMBARDIA
    • SAN DONATO MILANESE
    • Funded by an IRDiRC member
    • The Role of Inositol 1,4,5-trisphosphate Mediated Nuclear Ca2+ Signals In Core Myopathies
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Dipartimento di Scienze Biomediche Sperimentali
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • McArm study: development of a motion controlled arm support
    • Radboudumc - Oost
    • Afdeling Revalidatie
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Funded by an IRDiRC member
    • Impact of Next Generation Sequencing (NGS) for molecular diagnosis in a series of patients affected by genetically unresolved myopathies
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Mutation Screening in RYR1 Gene in Patients with Malignant Hyperthermia and/or CCD
    • Universitätsspital Basel
    • Zentrum für Leher und Forschung, L408
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • BASEL
    • 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
    • Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
    • Guy's Hospital
    • Health Psychology Section, Psychology Department, Institute of Psychiatry
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
    • PEALS Research Centre, Newcastle University, 4th Floor
    • Policy, Ethics and Life Sciences (PEALS) Research Centre
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • 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
  • 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
    • MYORES: European Muscle Development Network (FINISHED)
    • Faculté de médecine de Clermont-Ferrand
    • Laboratoire de Génétique, Reproduction et Développement
    • More details
    • FRANCE
    • AUVERGNE
    • CLERMONT-FERRAND
    • Funded by an IRDiRC member
    • ENDOSTEM: Activation of vasculature associated stem cells and muscle stem cells for the repair and maintenance of muscle tissue
    • Université Pierre et Marie Curie - Paris 6
    • Groupe Myologie - UMR S 787
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders
    • CHU de Marseille - Hôpital de la Timone
    • Laboratoire de génétique moléculaire
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Réseau analyses métaboliques et génétiques des hyperthermies malignes et des maladies à cores centraux
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Biochimie génétique et moléculaire
    • More details
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Funded by an IRDiRC member
    • IonNeurONet: German Network on neurological and ophthalmological ion channel diseases
    • 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
    • NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases
    • Institut für Medizinische Genetik und angewandte Genomik Tübingen
    • Institut für Medizinische Genetik und angewandte Genomik
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen
    • Charité / Max-Delbrück-Centrum für Molekulare Medizin
    • Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • 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
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • ENMC: European NeuroMuscular Centre
    • European NeuroMuscular Centre
    • More details
    • NETHERLANDS
    • Utrecht
    • BAARN
    • 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
    • TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research)
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE