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42 Result(s)

Funded by an IRDiRC member =

    29 Research projects; 13 Multicentric Research projects

    Research projects

    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • 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
    • CANADA
    • Ontario
    • TORONTO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • ESTONIA
    • Tartu
    • TARTU
    • The prevalence and genetic background of hereditary hearing impairment in Estonia
    • Department of Pediatrics, University of Tartu
    • Department of Paediatrics
    • More details
    • ESTONIA
    • Tartu
    • TARTU
    • Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation (EFT 5467).
    • University of Tartu
    • Institute of Molecular and Cell Biology
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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 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
    • Bayern
    • REGENSBURG
    • 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
    • Berlin
    • BERLIN
    • Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
    • Max-Planck-Institut für molekulare Genetik
    • Abteilung Human Molecular Genetics
    • 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
    • Diagnosis and therapy of hereditary retinal diseases
    • Augenklinik des UKGM am Standort Gießen
    • Klinik und Poliklinik für Augenheilkunde
    • More details
    • GERMANY
    • Saarland
    • HOMBURG
    • Visual impairment and blindness in multiple-handicapped children
    • Universitätsklinikum des Saarlandes
    • AG Kinder- & Neuroophthalmologie
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • Molecular analysis of families cosegregating X-linked mental retardation
    • Istituto Auxologico Italiano
    • Laboratorio di Biologia Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • 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
    • Identification of the function of genes muteted in X-linked mental retardation
    • Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
    • Laboratorio di Farmacologia Molecolare
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genetics basis of Mental Retardation
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • U.O.C.di Pediatria e Genetica Medica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • Laboratorio di Diagnosi Genetica
    • More details
    • ITALY
    • TOSCANA
    • PISA
    • Neuro-vascular interactions in the developing retina: exploring the cellular ethiology of Norrie Disease and testing the rationale for experimental therapeutic approaches in animal models
    • Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
    • Area della Ricerca
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • Inner ear connexins: role in hearing acquisition and DFNB1 pathophysiology
    • Venetian Institute of Molecular Medicine
    • Centro Interdipartimentale per lo Studio dei Segnali Cellulari
    • More details
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Funded by an IRDiRC member
    • Contribution of mutations in X linked genes versus mutations in autosomes in pairs of brothers with intellectual disabilities without etiology, and no other family history. Study by Next Generation Sequencing
    • Hospital Universitario Cruces - Osakidetza
    • Servicio de Genética
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Molecular mechanisms of pathogenesis and clinical variability in Norrie disease, a familial syndrome of blindness, deafness and mental retadation and allelic disorders (Coats disease, exsudative vitroretinopathy)
    • Universität Zürich
    • Institüt für Medizinische Molekulargenetik
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • 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
    • HINXTON
    • The Deciphering Developmental Disorders (the DDD study)
    • Wellcome Trust Sanger Institute
    • DECIPHER
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • 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
  • Multicentric Research projects

    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUXELLES
    • EuroVisionNet: Slechtziendheid en Degeneratie: Een draaiboek voor onderzoek naar gezichtsvermogen in Europe (AFGEROND)
    • EEIG - EUROPEAN VISION INSTITUTE
    • EUROPEAN VISION INSTITUTE
    • More details
    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • Maternal Infant Child and Youth Research Network (MICYRN)
    • University of British Columbia
    • Maternal Infant Child and Youth Research Network
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • 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
    • Bayern
    • ERLANGEN
    • Funded by an IRDiRC member
    • MRNET: German Mental Retardation Network
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Humangenetisches Institut
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • 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
    • Sachsen-Anhalt
    • MAGDEBURG
    • International Clearinghouse for Birth Defects Monitoring Systems
    • Universitätsklinikum Magdeburg A.ö.R
    • MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • 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
    • SICILIA
    • MESSINA
    • CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
    • A.O.U. Policlinico "G. Martino"
    • U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • GENCODYS - Genetic and Epigenetic Networks in Cognitive Dysfunction
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • NORWAY
    • Vestlandet
    • BERGEN
    • NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
    • Haukeland University Hospital
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
    • Centro de Regulación Genómica
    • Programa Genes y Enfermedad
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details