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24 Result(s)

Funded by an IRDiRC member =

    18 Research projects; 6 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
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • SYSCILIA - Component 3 - "Assessing and manipulating the variables of ciliary systems" (WP5)
    • Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
    • Nephro Lab - Walz Laboratory
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • SYSCILIA - Component 1 -"Defining the elements and variables of ciliary systems" (WP1 and WP2)
    • Forschungsinstitut für Augenheilkunde
    • Forschungsinstitut der Universitäts-Augenklinik Tübingen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Molecular Mechanism of hereditary kidney diseases - Study on nephronophthisis / medullary cystic kidney disease
    • Universitätsklinikum Münster
    • Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • EUCILIA: study of the ciliary protein interaction network to establish a hierarchy of temporal and spatial interactions of BBS, OFD1, and NPHP proteins (WP3)
    • Consorzio Mario Negri Sud
    • Dipartimento di Biologia Cellulare e Oncologia
    • More details
    • ITALY
    • ABRUZZO
    • SANTA MARIA IMBARO
    • EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • 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
    • EUNEFRON: rare disorders of the collecting dust (WP5)
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Fysiologie
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • An integrative approach to understand and antagonize ciliopathy phenotypes
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Funded by an IRDiRC member
    • Cystic and glomerular inherited kidney diseases: panel-based next-generation sequencing to improve diagnosis and exome sequencing to identify novel genes
    • Fundació Puigvert
    • Laboratorio de Biología Molecular
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • 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
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • 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

    • EUNEFRON: the European network for the study of orphan nephropathies
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • Laboratory of Nephrology
    • More details
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • 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
    • EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • 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
    • Funded by an IRDiRC member
    • SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN