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40 Result(s)

Funded by an IRDiRC member =

    29 Research projects; 11 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
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • Children's Hospital of Eastern Ontario
    • Newborn Screening Ontario
    • More details
    • CANADA
    • Ontario
    • OTTAWA
    • Funded by an IRDiRC member
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • University of Ottawa
    • Department of Epidemiology and Community Medicine
    • 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
    • Comparative study of residual rate of intramonocytes beta-glucocerebrosidase in patients with Gaucher disease treated by different imiglucerase
    • Hôpital Saint-Joseph
    • Laboratoire d'immunologie
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Auto-antibodies prevalence during Gaucher disease and role of the CD1 molecule in the immune event of this disease
    • Hôpital Saint-Joseph
    • Laboratoire d'immunologie
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Biomarker for Gaucher Disease (BioGaucher): An International, multicentre, epidemiological protocol
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • Albrecht-Kossel-Institut für Neurodegeneration
    • More details
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Liver cell therapy in selected congenital metabolic diseases
    • Medizinische Hochschule Hannover
    • Arbeitsgruppe Stoffwechselerkrankungen und Neuropädiatrie
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Molecular prognostic factors in pediatric diseases
    • Semmelweis University Hospital - 2nd Department of Paediatrics
    • SOTE Pediatric clinic II
    • More details
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • EUCLYD: gene therapy of animal models of lysosomal storage diseases (WP5)
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Funded by an IRDiRC member
    • Modulation of Cellular Clearance in Lysosomal Storage Disorders
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Clinical history and long-term cost-effectiveness of enzyme replacement therapy for Gaucher disease in Italy
    • Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Centro di Coordinamento Regionale per le Malattie Rare
    • More details
    • ITALY
    • FRIULI VENEZIA GIULIA
    • UDINE
    • 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
    • Molecular characterization of metabolic-genetic diseases
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche
    • More details
    • ITALY
    • LIGURIA
    • GENOVA
    • New technologies and new strategies for neonatal screening
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Laboratorio per lo Studio degli Errori Congeniti del Metabolismo
    • More details
    • ITALY
    • LIGURIA
    • GENOVA
    • 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
    • Development of cell and gene therapy for blood disorders, in particularly Gaucher and Blackfan-Diamond diseases
    • Seoul National University Hospital
    • Molecular Diagnostics Laboratory
    • More details
    • KOREA, REPUBLIC OF
    • KOREA, REPUBLIC OF
    • SEOUL
    • EUCLYD: natural history of lysosomal diseases and enzyme replacement therapy (WP2)
    • Erasmus MC - Erasmus Medisch Centrum
    • Afdeling Klinische Genetica
    • More details
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
    • Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
    • Unidade de Investigação & Desenvolvimento; Departamento de Genética
    • More details
    • PORTUGAL
    • NORTE
    • PORTO
    • Splicing therapeutics for patients affected by lisosomal storage disorders.
    • Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
    • Unidade de Investigação & Desenvolvimento; Departamento de Genética
    • More details
    • PORTUGAL
    • NORTE
    • PORTO
    • The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
    • Instituto de Biologia Molecular e Celular
    • Unidade de Biologia do Lisossoma e do Peroxissoma
    • More details
    • PORTUGAL
    • NORTE
    • PORTO
    • Inborn errors of endocrinology and metabolism
    • Karolinska Institutet - Solna
    • Department of Molecular Medicine and Surgery
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • EUCLYD: substrate reduction therapy for glycospingolipidoses and mucopolysaccharidoses (WP4)
    • Addenbrooke's Hospital
    • Lysosomal Disorders Unit
    • 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
    • CAMBRIDGE
    • Development of diagnostic methods for lysosomal storage diseases
    • UCL Institute of Child Health, University College London
    • Biochemistry Research Group
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • 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
    • CIMDRN- Canadian Inherited Metabolic Diseases Research Network
    • University of Ottawa
    • Faculty of Medicine -
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • Réseau Sud-Ouest des erreurs innées du métabolisme
    • CHU de Toulouse - Hôpital Purpan
    • Laboratoire de biochimie
    • More details
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Réseau sur les maladies de surcharge lysosomales
    • Faculté de médecine - RTH Laënnec
    • Métabolomique et maladies métaboliques
    • More details
    • FRANCE
    • RHONE-ALPES
    • LYON
    • EUCLYD: Consorzio europeo per le malattie lisosomiali
    • Azienda Ospedaliera Universitaria "Federico II"
    • Laboratorio Dipartimento di Pediatria
    • 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
    • PERSIST: Persisting transgenesis
    • 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
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • ESGLD: European study group on lysosomal diseases
    • UCL Institute of Child Health, University College London
    • Biochemistry Research Group
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Funded by an IRDiRC member
    • TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
    • Oxford University Begbroke Science Park
    • Zyoxel Limited
    • More details
    • UNITED KINGDOM
    • Oxfordshire
    • BEGBROKE
    • MetBioNet - National Metabolic Biochemistry Network
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD