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50 Result(s)

Funded by an IRDiRC member =

    31 Research projects; 19 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
    • 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
    • Clinical, radiological and genetic characterization of new forms of leukodystrophies
    • Montreal Children's Hospital Research Institute - McGill University
    • Pediatric Neurodegenerative Laboratory
    • More details
    • CANADA
    • Québec
    • MONTRÉAL
    • LEUKOTREAT: innovative gene and cell therapies in leukodystrophies (WP4)
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Service de Neurologie Pédiatrique
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • LEUKOTREAT: innovative gene and cell therapies in leukodystrophies (WP4)
    • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Développement, pathologies gliales et réparation
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • LEUKOTREAT: ethical impacts of therapeutic challenges in leukodystrophies (WP5)
    • Centre Universitaire des Saints-Pères - Faculté de Médecine
    • Laboratoire d'éthique médicale et médecine légale
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Biomarker for Krabbe Disease (BioKrabbe): An International, multicentre, epidemiological protocol
    • Albrecht-Kossel-Institute for Neuroregeneration (AKos)
    • Albrecht-Kossel-Institut für Neurodegeneration
    • More details
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Clinical and molecular characterization of genetically determined unclear white matter disorders
    • Universitätsmedizin Göttingen
    • Klinik für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • 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
    • LEUKOTREAT: characterizing leukodystrophies for therapies (WP1)
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare
    • 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
    • LAZIO
    • ROMA
    • 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
    • Combined approaches based on gene transfer and neural stem cells (NSC) for Metachromatic leukodystrophy and Globoid cell leukodystrophy
    • 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
    • CNS-directed gene/cell therapy of LSDs
    • 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
    • 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
    • Hsc-based ex vivo gene therapy of metachromatic and globoid leukodystrophy
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • LEUKOTREAT: innovative gene and cell therapies in leukodystrophies (WP4)
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Cellule staminali ematopoietiche per la terapia genica nel trattamento della leucodistrofia globoide
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • 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
    • 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
    • LEUKOTREAT: biomarkers for leukodystrophies treatment (WP2)
    • IDIBELL - Instituto de Investigación Biomédica de Bellvitge
    • Laboratorio de Enfermedades Neurometabólicas
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • 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
    • 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
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • 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

    • MYELINET: Myelin orphan diseases in health
    • Medizinische Universität Wien
    • Center for Brain Research
    • More details
    • AUSTRIA
    • WIEN
    • WIEN
    • 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
    • Funded by an IRDiRC member
    • LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials
    • Faculté de médecine de Clermont-Ferrand
    • Laboratoire de Génétique, Reproduction et Développement
    • More details
    • FRANCE
    • AUVERGNE
    • CLERMONT-FERRAND
    • 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
    • BNE: BrainNet Europe II: European brain tissue bank
    • Zentrum für Neuropathologie und Prionforschung (ZNP)
    • Zentrum für Neuropathologie und Prionforschung der LMU München
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
    • HSK, Dr. Horst Schmidt Kliniken GmbH
    • Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
    • More details
    • GERMANY
    • Hessen
    • WIESBADEN
    • Funded by an IRDiRC member
    • LEUKONET: German Leukodystrophy Network
    • Medizinische Fakultät der Universität Bonn
    • Institut für Biochemie und Molekularbiologie
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • 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
    • Funded by an IRDiRC member
    • 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
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • 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
    • ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • MetBioNet - National Metabolic Biochemistry Network
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
    • St James's University Hospital
    • Department of Biochemical Genetics
    • More details
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS