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Projets de recherche
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Arbeitsgruppe Glykosylierungsdefekte
ALLEMAGNE
Berlin
BERLIN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik
ALLEMAGNE
Niedersachsen
GÖTTINGEN
Neurodegenerative disorders with onset in childhood and adolescence ('childhood dementia') - major causes and therapy approaches
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
ALLEMAGNE
Nordrhein-Westfalen
MÜNSTER
CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
ESPAGNE
Madrid
CANTOBLANCO
Genetic Neurometabolic Disorders: Advances in the Diagnosis, pathophysiology and development of protein stabilization therapies
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Involvement of CXCL12 and CXCL14 chemokines in connective tissue-mediated limb muscle morphogenesis.
Institution: Information not provided - FR
FRANCE
HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ
Bases moléculaires et physiopathologiques des maladies congénitales de glycosylation (CDG)
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle
FRANCE
HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ
EUROGLYCAN: Vers une nouvelle ère pour l'identification et la caractérisation des erreurs innées de glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle
FRANCE
PAYS DE LA LOIRE
NANTES
Modélisation in vivo pour le diagnostic génétique des déficiences intellectuelles
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire
ROYAUME-UNI
Cambridgeshire
CAMBRIDGE
Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research
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
ESPAGNE
Galicia
SANTIAGO DE COMPOSTELA
Testing the effectiveness the of Nanostring nCounter platform detecting defects of gene expression in patients with undiagnosed rare diseases
Complejo Hospitalario Universitario de Santiago
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas
ESPAGNE
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
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
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
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
ANGERS
Omics pour améliorer le diagnostic des déficiences intellectuelles rares
CHU d'Angers
Service de génétique
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
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALIE
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
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
ROYAUME-UNI
Tyne & Wear
NEWCASTLE UPON TYNE
ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
SUEDE
Stockholms läns landsting
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUISSE
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
SUISSE
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
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ROYAUME-UNI
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
Projets de recherche multicentriques
- Institut de Biologie et Chimie des Protéines
- LBTI - Laboratoire de Biologie Tissulaire et Ingénierie thérapeutique
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- University Hospitals Leuven - Gasthuisberg
- Department of Human Genetics
- University Hospitals Leuven - Gasthuisberg
- Department of Human Genetics
- University Hospitals Leuven - Gasthuisberg
- Department of Human Genetics
- University Hospitals Leuven - Gasthuisberg
- Centrum Menselijke Erfelijkheid
- CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
- Centre d'étude des Glycopathies
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- Humangenetisches Institut am Universitätsklinikum Erlangen
- Humangenetisches Institut
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- University of Ottawa
- Faculty of Medicine -
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- 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
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Faculty of of Life Sciences - University of Manchester
- Wellcome Trust Centre for Cell Matrix Research - B.3016
- 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
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
FRANCE
AUVERGNE-RHONE-ALPES
LYON
ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)
FRANCE
ILE-DE-FRANCE
PARIS
Cutis laxa: groupe français de recherche sur le cutis laxa
ALLEMAGNE
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
BELGIQUE
VLAAMS BRABANT
LEUVEN
EUROGLYCANET: European network on Congenital Disorders of Glycosylation
BELGIQUE
VLAAMS BRABANT
LEUVEN
EURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders
BELGIQUE
VLAAMS BRABANT
LEUVEN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation
BELGIQUE
VLAAMS BRABANT
LEUVEN
EURO-CDG: A European research network for a systematic approach to CDG and related diseases
FRANCE
ILE-DE-FRANCE
PARIS
Réseau de recherche sur les syndromes CDG (TERMINE)
ROYAUME-UNI
West Midlands
BIRMINGHAM
Midlands Muscle Network
ALLEMAGNE
Bayern
ERLANGEN
MRNET: German Mental Retardation Network -terminated
ALLEMAGNE
Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
ESPAGNE
Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
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
ITALIE
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ITALIE
SICILIA
MESSINA
CHERISH: amélioration du diagnostic de retard mental chez les enfants en Europe centrale et orientale et en Asie centrale grâce à la caractérisation génétique et la bioinformatique/biostatistique
PAYS-BAS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
ROYAUME-UNI
Greater Manchester
MANCHESTER
ESDN: European Skeletal Dysplasia Network
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
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
ROYAUME-UNI
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
ROYAUME-UNI
West Yorkshire
LEEDS
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCE
ILE-DE-FRANCE
PARIS
GM: Génodermatoses et Méditerranée
ITALIE
LAZIO
ROMA