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20 Result(s)

Funded by an IRDiRC member =

    16 Research projects; 4 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
    • Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
    • Institut für Humangenetik am Universitätsklinikum Jena
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Thüringen
    • JENA
    • 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
    • Identification of candidate genes in carriers of balanced chromosomal rearrangements associated with clinical phenotype: study of intragenic breakpoints or contiguous and deregulation of gene expression
    • Istituto Auxologico Italiano
    • Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
    • More details
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • 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
    • Funded by an IRDiRC member
    • Alterations in immune response and hematopoietic development in Wolf-Hirschhorn syndrome: from the animal models to the patients
    • CBMSO - Centro de Biología Molecular Severo Ochoa
    • Grupo: Plasticidad celular en desarrollo y cáncer
    • More details
    • SPAIN
    • Madrid
    • CANTOBLANCO
    • Chromosomal anomaly
    • Karolinska University Hospital - Clinical Genetics
    • Clinical Genetics
    • 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
    • The Deciphering Developmental Disorders (the DDD study)
    • Wellcome Trust Sanger Institute
    • DECIPHER
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • HINXTON
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV
    • University of Sussex
    • DNA double strand break repair laboratory
    • More details
    • UNITED KINGDOM
    • East Sussex
    • BRIGHTON
    • 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
    • International Clearinghouse for Birth Defects Monitoring Systems
    • Universitätsklinikum Magdeburg A.ö.R
    • MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
    • More details
    • GERMANY
    • Sachsen-Anhalt
    • MAGDEBURG
    • 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