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Research projects
FRANCE
HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle
GERMANY
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 Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum
GERMANY
Niedersachsen
GÖTTINGEN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
GERMANY
Nordrhein-Westfalen
MÜNSTER
CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
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
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
OTTAWA
Novel therapeutic approaches to target GNE Myopathy
Children's Hospital of Eastern Ontario
Division of Neurology
CANADA
Ontario
OTTAWA, ONTARIO
A study of the NMJ in GFPT1-deficient zebrafish
University of Ottawa
Faculty of Medicine -
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
GERMANY
Nordrhein-Westfalen
MÜNSTER
Molecular mechanism of leukocyte migration in Leukocyte adhesion deficiendy type II
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
GERMANY
Sachsen-Anhalt
HALLE (SAALE)
ProDGNE: Novel therapeutic approaches to target GNE Myopathy -DE
Institut für Physiologische Chemie der Medizinische Fakultät
Institut für Physiologische Chemie
ISRAEL
ISRAEL
ADDRESS: NOT PROVIDED - IL
Zebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL
ISRAEL
ISRAEL
JERUSALEM
Cellular Models to explore GNE functions in muscle
The Hebrew University of Jerusalem
Faculty of Medicine
ITALY
LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
ITALY
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
SARDEGNA
CAGLIARI
ProDGNE: Novel therapeutic approaches to target GNE Myopathy - IT
Università degli Studi di Cagliari
Dipartimento di Scienze della Vita e dell'Ambiente
SPAIN
Andalucía
MÁLAGA
Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
Comunidad Valenciana
VALENCIA
Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Enzimopatología Estructural
SPAIN
Madrid
CANTOBLANCO
Cross-omic approach for discovery of disease-causes in inborn error of metabolism and for personalized therapeutical intervention
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
GERMANY
Rheinland-Pfalz
COLOGNE
Biomarker discovery and validation for LGMD2I/FKRP-related muscular dystrophy
University of Cologne
Center for Molecular Medicine Cologne
ITALY
EMILIA ROMAGNA
BOLOGNA
Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
NORWAY
Nord-Norge
TROMSØ
Pathophysiological mechanisms with Limb Girdle muscular dystrophy Type 21
UNN - Universitetssykehuset Nord-Norge
NMK - Nevromuskulært kompetansesenter
NORWAY
Nord-Norge
TROMSØ
Limb-Girdle Muscular Dystrophy in Norway, a cohort study
UNN - Universitetssykehuset Nord-Norge
NMK - Nevromuskulært kompetansesenter
NORWAY
Østlandet
NESODDTANGEN
Levels of activity and independence: a study of the interface of current health policy discourse and subjective realities
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
PORTUGAL
CENTRO
ADDRESS: NOT PROVIDED - PT
Understanding the developmental onset of muscular dystrophy in a mouse model of MDC1A.
Institution: Information not provided - PT
SPAIN
Andalucía
SEVILLA
The involvement of muscle stem cells in the pathology of muscular dystrophy due to POGLUT1 mutations
IBIS - Instituto de Biomedicina de Sevilla
Grupo de enfermedades neuromusculares
SPAIN
Comunidad Valenciana
VALENCIA
Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
Universitat de València. Facultat de Medicina i Odontologia
Departamento de Bioquímica y Biología Molecular
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Targeting dystroglycanopathies using pluripotent-derived myogenic progenitors
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Characterization of the role of pofut2-mediated o-fucosylation in folding thrombospondin type 1 repeats and development
Institution: Information not provided - US
Multicentric Research projects
- UZ Leuven - Campus Gasthuisberg
- Centrum Menselijke Erfelijkheid - UZ Leuven
- UZ Leuven - Campus Gasthuisberg
- Centrum Menselijke Erfelijkheid - UZ Leuven
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Faculdade de Ciências Médicas - Universidade Nova de Lisboa
- Departamento de Ciências da Vida
- Istituto Ortopedico Rizzoli - Ospedale
- Struttura Complessa Malattie Rare Scheletriche
BELGIUM
VLAAMS BRABANT
LEUVEN
EURO-CDG: A European research network for a systematic approach to CDG and related diseases
BELGIUM
VLAAMS BRABANT
LEUVEN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
PORTUGAL
SUL
LISBOA
ProDGNE: Novel therapeutic approaches to target GNE Myopathy
ITALY
EMILIA ROMAGNA
BOLOGNA