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43 Result(s)

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Funded by an IRDiRC member =

    32 Research projects; 11 Multicentric Research projects

    Research projects

    • Ex vivo gene therapy of metabolic diseases of the hepatocytes
    • Hôpital des Enfants - Hôpitaux Universitaires de Genève
    • Service de Chirurgie Pédiatrique
    • More details
    • SWITZERLAND
    • Suisse Romande
    • GENÈVE
    • Cis-regulatory mapping of the RPE-expressed transcription factor OTX2
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
    • CHU de Strasbourg - Hôpital Civil
    • Laboratoire de diagnostic génétique
    • More details
    • FRANCE
    • ALSACE
    • STRASBOURG
    • Epidemiological study in hereditary dystrophies of retina
    • Institut de la Vision
    • Recherche Clinique
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
    • CHRU de Montpellier - Hôpital Saint-Eloi
    • Equipe Génétique et thérapie des cécités rétiniennes et du nerf optique
    • More details
    • FRANCE
    • LANGUEDOC-ROUSSILLON
    • MONTPELLIER
    • Phenotype-genotype correlation in hereditary degeneration of the retina and the optic nerve (extended function analysis and differentiation, neuro-ophthalmology, mouse models)
    • Forschungsinstitut für Augenheilkunde
    • Forschungsinstitut der Universitäts-Augenklinik Tübingen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • HOPE2: Hereditary Retinal Disorders - From patients towards therapies : validation and application of retina-derived neuroprotective factors to the dystrophic retina (subproject 5 )
    • Forschungsinstitut für Augenheilkunde
    • Forschungsinstitut der Universitäts-Augenklinik Tübingen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • HOPE2: Hereditary Retinal Disorders - From patients towards therapies: modifying factors and functional assessment of gene variants (subproject 4)
    • Forschungsinstitut für Augenheilkunde
    • Molekulargenetisches Labor
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Two photon excited fluorescence imaging using a femtosecond Ti:sapphire
    • Universitäts-Augenklinik Bonn
    • Experimental Ophthalmology
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Genotype-phenotype correlations and long-term evaluation in inherited retinal dystrophies and optic neuropathies
    • Augenzentrum Siegburg
    • AugenZentrum Siegburg Professor Dr. med. Ulrich Kellner
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • SIEGBURG
    • Optical coherence tomography (OCT), fundus autofluorescence (FAF) and near-infrared autofluorescence (NIA) imaging for early detection and differentiation of retinal dystrophies
    • Augenzentrum Siegburg
    • AugenZentrum Siegburg Professor Dr. med. Ulrich Kellner
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • SIEGBURG
    • Web-based interactive information for patients with inherited retinal and visual pathway disorders
    • Augenzentrum Siegburg
    • AugenZentrum Siegburg Professor Dr. med. Ulrich Kellner
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • SIEGBURG
    • Funded by an IRDiRC member
    • MicroRNA-Regulated Gene Networks in the Retina
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Design of a genetic diagnostic chip for retinal dystrophies
    • Universitat de Barcelona. Facultat de Biologia
    • Departamento de Genética
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • The genetic and molecular basis of retinal dystrophies
    • Universität Zürich
    • Institüt für Medizinische Molekulargenetik
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Funded by an IRDiRC member
    • HOPE2: Hereditary Retinal Disorders - From Patients Towards Therapies to each project: Translation of novel diagnostics procedures and evaluation of experimental therapies in hereditary retinal disorders (subproject 2)
    • Forschungsinstitut für Augenheilkunde
    • Forschungsinstitut der Universitäts-Augenklinik Tübingen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • HOPE2: Hereditary Retinal Disorders - From Patients Towards Therapies: Integrated diagnostics in hereditary retinal disorders (subproject 3)
    • Universitätsklinikum Regensburg
    • Zentrum und Institut für Humangenetik Regensburg
    • More details
    • GERMANY
    • Bayern
    • REGENSBURG
    • Diagnosis and therapy of hereditary retinal diseases
    • Augenklinik des UKGM am Standort Gießen
    • Klinik und Poliklinik für Augenheilkunde
    • More details
    • GERMANY
    • Hessen
    • GIEßEN
    • Genotype phenotype correlation of hereditary eye diseases
    • Augenklinik des UKGM am Standort Gießen
    • Klinik und Poliklinik für Augenheilkunde
    • More details
    • GERMANY
    • Hessen
    • GIEßEN
    • Intrauterine development of energy metabolism
    • Medizinische Hochschule Hannover
    • Arbeitsgruppe Stoffwechselerkrankungen und Neuropädiatrie
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • 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
    • 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
    • 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
    • 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
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • 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

    • EVI-GENORET: functional genomics of the retina in health and disease (FINISHED)
    • Institut de la Vision
    • Recherche Clinique
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • EsRetNet: Spanish Network of Reseach on Retinal Dystrophies
    • Fundación Jiménez Díaz
    • Servicio de Genética Clínica
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Funded by an IRDiRC member
    • HOPE 2: Hereditary Retinal Disorders - From Patients Towards Therapies
    • Forschungsinstitut für Augenheilkunde
    • Forschungsinstitut der Universitäts-Augenklinik Tübingen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • EuroVisionNet: Slechtziendheid en Degeneratie: Een draaiboek voor onderzoek naar gezichtsvermogen in Europe (AFGEROND)
    • EEIG - EUROPEAN VISION INSTITUTE
    • EUROPEAN VISION INSTITUTE
    • More details
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUXELLES
    • 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 Sud-Ouest des erreurs innées du métabolisme
    • CHU de Toulouse - Hôpital Purpan
    • Laboratoire de biochimie
    • More details
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • UnRareNet:A muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Ambulatorio Polispecialistico per le Malattie Rare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • 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
    • MetBioNet - National Metabolic Biochemistry Network
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD