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Projets de recherche
FRANCE
ILE-DE-FRANCE
PARIS
Génétique des dyslipidémies: relations génotype-phénotype; retentissement vasculaire des dyslipidémies héréditaires chez l'enfant
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques
AUTRICHE
WIEN
ADDRESS: NOT PROVIDED - AT
Loss of MMP12 in LAL-D and cardiometabolic disease
Institution: Information not provided - AT
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
ESPAGNE
Cataluña
REUS
Epigenetic study to improve the genetic diagnosis of familial hyperlipidemias
Institut d'Investigació Sanitària Pere Virgili. Facultat de Medicina
URLA: Unidad de investigación en lípidos y arteriosclerosis
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
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
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
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
ITALIE
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
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
SUEDE
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
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
AUTRICHE
WIEN
ADDRESS: NOT PROVIDED - AT
Global Lomitapide (Juxtapid and Lojuxta) Pregnancy Exposure Registry - AT
Institution: Information not provided - AT
AUTRICHE
WIEN
ADDRESS: NOT PROVIDED - AT
GENIALL LPLD Registry: observational longitudinal pharmaco-epidemiologic study in lipoprotein lipase deficient (LPLD) patients, either treated or not treated with alipogene tiparvovec (Glybera®) - AT
Institution: Information not provided - AT
ESPAGNE
Cataluña
REUS
Early detection of familial hypercholesterolemia in children in Tarragona province
Hospital Universitari de Sant Joan de Reus
Servicio de Medicina Interna
Projets de recherche multicentriques
- 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
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
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 de la Recombinaison Homologue pour la Thérapie Génique
FRANCE
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française
ROYAUME-UNI
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
FRANCE
AUVERGNE-RHONE-ALPES
LYON