Rechercher un projet de recherche
Autre(s) option(s) de recherche
30 Résultat(s)
Financé par un membre IRDiRC = 
Membre d'un ERN = 
Projets de recherche
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
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Rapalog therapy in heritable and vigabatrin-induced gaba metabolic disorders
Institution: Information not provided - US
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
ITALIE
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SUEDE
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUISSE
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
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
Natural history study of patients with Succinic semialdehyde dehydrogenase (SSADH) deficiency
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Personalized medicine in the genetic defects of neurotransmission in pediatrics. New approach based on the metabolism of the neuronal synapse (amino acid mediated neurotransmission diseases)
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas
ESPAGNE
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
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
JAPON
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
JAPON
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
JAPON
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
CANADA
Alberta
EDMONTON
Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias
University of Alberta
Department of Biological Sciences
CANADA
Colombie-Britannique
VANCOUVER
Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias
Child & Family Research Institute
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Gene therapy platform for rare diseases
Institution: Information not provided - US
Projets de recherche multicentriques
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- 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
- APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
- Unité fonctionnelle Maladie de Parkinson et Pathologies du Mouvement
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCE
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
ROYAUME-UNI
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
ROYAUME-UNI
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française
ITALIE
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
FRANCE
ILE-DE-FRANCE
PARIS