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34 Result(s)

Funded by an IRDiRC member =

    23 Research projects; 11 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
    • OTTAWA, ONTARIO
    • Detection and simulation of femoroacetabular impingement
    • University of Ottawa
    • School of Electrical Engineering and Computer Science (EECS)
    • 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
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Sonderforschungsbereich (SFB) 1140 KIDGEM: Kidney Disease- from Genes to Mechanism : Organ specific outcomes in ciliary signaling defects
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Sektion Pädiatrische Genetik der Klinik für Allgemeine Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • SYSCILIA - Component 3 - "Assessing and manipulating the variables of ciliary systems" (WP5)
    • Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
    • The Walz lab - Hereditary Kidney Diseases - Molecular Biology
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • SYSCILIA - Component 1 -"Defining the elements and variables of ciliary systems" (WP1 and WP2)
    • Forschungsinstitut für Augenheilkunde
    • Forschungsinstitut der Universitäts-Augenklinik Tübingen
    • More details
    • ITALY
    • ABRUZZO
    • SANTA MARIA IMBARO
    • 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
    • CAMPANIA
    • NAPOLI
    • 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
    • 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
    • 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
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Investigating the molecular basis of ciliopathies resulting from cytoplasmic dynein-2 dysfunction
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • An integrative approach to understand and antagonize ciliopathy phenotypes
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • 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
    • 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
    • Greater London
    • LONDON
    • Natural history and management in Skeletal Dysplasias
    • Great Ormond Street Hospital for Children, NHS Foundation Trust
    • Clinical Genetics
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • EUCILIA: study of the downstream events caused by the absence of BBS, OFD1, or NPHP (WP5)
    • UCL Institute of Child Health, University College London
    • Molecular Medicine Unit
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • EUCILIA: identification of druggable targets for the amelioration and prevention of renal cyst in fish and mouse models of BBS, OFD1 and NPHP (WP6)
    • UCL Institute of Child Health, University College London
    • Molecular Medicine Unit
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • ESDN: European Skeletal Dysplasia Network (coordination)
    • International Centre for Life
    • Institute of Genetic Medicine
    • 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

    • 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
    • Hessen
    • GIEßEN
    • ECCPS: The Excellence Cluster Cardio-Pulmonary System
    • Med. Klinik und Poliklinik II des UKGM am Standort Gießen
    • ECCPS: Excellence Cluster Cardio-Pulmonary System - Office
    • More details
    • GERMANY
    • Hessen
    • GIEßEN
    • UGLC : University of Giessen Lung Center
    • Med. Klinik und Poliklinik II des UKGM am Standort Gießen
    • Medizinische Klinik und Poliklinik II
    • 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
    • CAMPANIA
    • NAPOLI
    • 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
    • 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
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • UNITED KINGDOM
    • Greater Manchester
    • MANCHESTER
    • ESDN: European Skeletal Dysplasia Network
    • Faculty of of Life Sciences - University of Manchester
    • Wellcome Trust Centre for Cell Matrix Research - B.3016
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • National Autozygosity Mapping Resource
    • Birmingham Women's NHS Foundation Trust
    • Medical and Molecular Genetics, Norton Court
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • National Autozygosity Mapping Resource
    • University of Birmingham
    • Department of Medical and Molecular Genetics
    • More details