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44 Result(s)

Funded by an IRDiRC member =

    33 Research projects; 11 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
    • Genetic testing in Europe - Network for the further development, harmonization, validation and standardization of services
    • University Hospitals Leuven - Gasthuisberg
    • Laboratory for Molecular Diagnostics
    • More details
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • Detection and simulation of femoroacetabular impingement
    • University of Ottawa
    • School of Electrical Engineering and Computer Science (EECS)
    • 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
    • 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
    • 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
    • SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease - UK
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • 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
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Funded by an IRDiRC member
    • GRiP: Global Research in Paediatrics - NL
    • AMC - Academisch Medisch Centrum
    • Afdeling Klinische Epidemiologie in de Kindergeneeskunde
    • More details
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Funded by an IRDiRC member
    • GRiP: Global Research in Paediatrics - NL
    • VSOP
    • Vereniging Samenwerkende Ouder- en Patiëntenorganisaties
    • More details
    • NETHERLANDS
    • Utrecht
    • SOEST
    • Funded by an IRDiRC member
    • SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease - NL (Terminated)
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Afdeling Nefrologie en Hypertensie
    • More details
    • NETHERLANDS
    • Utrecht
    • UTRECHT
    • Funded by an IRDiRC member
    • GRiP: Global Research in Paediatrics - NL
    • Erasmus MC - Erasmus Medisch Centrum
    • Vakgroep Medische Informatica
    • More details
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Instytut "Pomnik-Centrum Zdrowia Dziecka"
    • Klinika Anestezjologii i Intensywnej Terapii
    • More details
    • POLAND
    • Warszawa
    • WARSAW
    • 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
    • GRiP: Global Research in Paediatrics - ES
    • Hospital Universitario Cruces - Osakidetza
    • Unidad Neonatal
    • More details
    • SPAIN
    • País Vasco
    • BARAKALDO
    • SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease - UK
    • Cambridge Cell Networks Ltd
    • St Johns Innovation Centre
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • 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
    • 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
    • GRIP: Global Research in Paediatrics
    • St George's Hospital University of London
    • Institute of Infection and immunity
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease - UK
    • UCL Institute of Child Health, University College London
    • Molecular Medicine Unit
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • GRIP: Global Research in Paediatrics
    • University College London
    • School of Pharmacy
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • GRIP: Global Research in Paediatrics
    • Liverpool Women's NHS Foundation Trust
    • Department of Women's and Children's Health
    • More details
    • UNITED KINGDOM
    • Merseyside
    • LIVERPOOL
    • ESDN: European Skeletal Dysplasia Network (coordination)
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • 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
    • SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease - UK
    • St. James University Hospital
    • Leeds Institute of Biomedical and Clinical Sciences
    • More details
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS
  • 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
    • Funded by an IRDiRC member
    • SKELNET: Skeletal Dysplasia Network - terminated
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Geschäftsstelle SKELNET e.V.
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • 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
    • Hessen
    • GIEßEN
    • International Clearinghouse for Birth Defects Monitoring Systems
    • Universitätsklinikum Magdeburg A.ö.R
    • MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
    • More details
    • GERMANY
    • Sachsen-Anhalt
    • MAGDEBURG
    • 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
    • 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
    • Greater Manchester
    • MANCHESTER
    • 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
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM