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Research projects
CANADA
Québec
MONTRÉAL
Inborn errors of cobalamin and folate metabolism
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Génétique médicale - Medical Genetics
GERMANY
Niedersachsen
GÖTTINGEN
Neurodegenerative disorders with onset in childhood and adolescence ('childhood dementia') - major causes and therapy approaches
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SWITZERLAND
Suisse Alémanique
ZÜRICH
Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
CANADA
Ontario
TORONTO
Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute
Multicentric Research projects
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- University of Ottawa
- Faculty of Medicine -
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- Universitätsklinikum des Saarlandes
- Institut für Molekulare Zellbiologie
- Institution: Information not provided - ES
GERMANY
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
GERMANY
Saarland
HOMBURG
CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments
SPAIN
Madrid
ADDRESS: NOT PROVIDED - ES