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Projetos de investigação
CANADA
Québec
SHERBROOKE
New roles for copper metabolism proteins in meiotic differentiation
Centre de développement des biotechnologies (CDB) de Sherbrooke
Département de Biochimie
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Disorders of copper transport
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Inherited disorders of copper transport
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Protein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US
FRANCA
BRETAGNE
RENNES
Search for genetic variants modifying human iron homeostasis
CHU de Rennes - Hôpital Pontchaillou
UMR 6290 CNRS "Génomique fonctionnelle intégrée et biomarqueurs", Biogenouest® Plate-forme Genomique Santé
FRANCA
BRETAGNE
RENNES
Study of penetrance of C282Y homozygocity in hereditary hemochromatosis
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie
FRANCA
OCCITANIE
MONTPELLIER
Hereditary pathology of the red blood cell and of iron metabolism: study of genetic factors interaction
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique
FRANCA
OCCITANIE
MONTPELLIER
Study of genes implicated in iron metabolism and clinical expression of hereditary hemochromatosis
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique
FRANCA
OCCITANIE
TOULOUSE
Search for genetic factors modifying hemochromatosis penetrance using different approaches like a murine model of the disease
CHU de Toulouse - Hôpital Purpan
Département génétique - maladies humaines et modèles animaux
ITALIA
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
PIEMONTE
TORINO
Role of the plasma proteins haptoglobin and hemopexin in the pathogenesis of hemochromatosis (terminated)
Azienda Ospedaliero-Universitaria San Giovanni Battista di Torino
Dipartimento di Genetica Biologia e Biochimica
ITALIA
SARDEGNA
CAGLIARI
Study of phenotypic variability present in Wilson's disease
Ospedale Regionale per le Microcitemie
Laboratorio Epatopatie Genetiche
PORTUGAL
SUL
LISBOA
Hemocromatose hereditária não-clássica e outras doenças genéticas raras associadas a distúrbios na homeostase do ferro
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética
REINO UNIDO
South Yorkshire
SHEFFIELD
EUROWILSON: European network on Wilson disease (coordination)
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)
SUECIA
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUICA
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPANHA
Cataluña
BARCELONA
Systems biology for the discovery of pathophysiological mechanisms and therapeutic targets in primary familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Hospital Universitari Vall d'Hebron
Servicio de Nefrología Pediátrica
ESPANHA
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCA
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
FRANCA
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
JAPAO
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
JAPAO
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
JAPAO
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
ALEMANHA
Bayern
MÜNCHEN
Role of kinase-coupled TRP channels in Mg2+ homeostasis: From mouse models to human disease (TRR 152: P15)
Walther-Straub-Institut für Pharmakologie und Toxikologie der LMU München
Walther-Straub-Institut für Pharmakologie und Toxikologie
FRANCA
ILE-DE-FRANCE
PARIS
T-JUST: Tight junctions: from structure to treatment - FR
Centre de Recherches des Cordeliers (CRC)
Equipe "Métabolisme et Physiologie Rénale"
PAISES BAIXOS
Gelderland
NIJMEGEN
The magnesium journey through the renal cell: how to get out?
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie
Projetos de investigação multicêntricos
- Universitätsklinikum Münster
- Medizinische Klinik B für Gastroenterologie und Hepatologie
- University of Ottawa
- Faculty of Medicine -
- CHU de Rennes - Hôpital Pontchaillou
- Service des maladies du foie
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- The Sheffield Children's Hospital
- Sheffield Children's Hospital (Division of Child Health)
- 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
- Centre de Recherches des Cordeliers (CRC)
- Equipe "Métabolisme et Physiologie Rénale"
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
WILSONINDIA: Novel opportunities for diagnosis and therapy of Wilson's disease in India
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCA
BRETAGNE
RENNES
Réseau français pour le dépistage familial de l'hémochromatose génétique - recherche de gènes modificateurs
FRANCA
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
REINO UNIDO
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
REINO UNIDO
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
REINO UNIDO
South Yorkshire
SHEFFIELD
EUROWILSON: European network on Wilson disease (research)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
FRANCA
ILE-DE-FRANCE
PARIS