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Projets de recherche

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Projet de recherche clinique sur la maladie de Refsum
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

Niedersachsen
GÖTTINGEN
Clinical and molecular characterization of genetically determined unclear white matter disorders
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

Québec
MONTRÉAL
Caractérisation clinique, radiologique et génétique de nouvelles formes de leucodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

ILE-DE-FRANCE
PARIS
LEUKOTREAT: impacts éthiques des challenges thérapeutiques dans les leucodystrophies (WP5) - FR
Centre Universitaire des Saints-Pères - Faculté de Médecine
Laboratoire d'éthique médicale et médecine légale

LOMBARDIA
MILANO
LEUKOTREAT: innovative gene and cell therapies in leukodystrophies (WP4) - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

Cambridgeshire
CAMBRIDGE
Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

Niedersachsen
GÖTTINGEN
Molecular and functional characterization of humane peroxins
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

Lothian
EDINBURGH
Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

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

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

Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US

HAUTS-DE-FRANCE
LILLE
ID2STOP Orphan: Technologie de Sélection Individualisée de Médicaments pour les patients orphelins
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

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

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

CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

LIGURIA
GENOVA
New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

Stockholms läns landsting
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

Suisse Romande
LAUSANNE
Etude rétrospective portant sur les patients adultes avec Erreurs Innées du Métabolisme en Suisse Romande
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires
Projets de recherche multicentriques
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- Medizinische Fakultät der Universität Bonn
- Institut für Biochemie und Molekularbiologie
- Medizinische Universität Wien
- Center for Brain Research
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- Medizinische Universität Wien
- Center for Brain Research
- 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
- CHU de Toulouse - Hôpital Purpan
- 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
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- St James's University Hospital
- Department of Biochemical Genetics

Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network

Nordrhein-Westfalen
BONN
LEUKONET: German Leukodystrophy Network

WIEN
WIEN
MYELINET: Myelin orphan diseases in health

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials

Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank

WIEN
WIEN
PEROXISOMES: Integrated project to decipher the biological function of peroxisomes in health and disease (FINISHED)

Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases

Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network

ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique

OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme

PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française

LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)

Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT

South Yorkshire
SHEFFIELD
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism

South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network

West Yorkshire
LEEDS