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Research projects
SWEDEN
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SWEDEN
Region Västra Götaland
GÖTEBORG
Molecular and functional studies of neuromuscular disorders related to the sarcomeric proteins
Göteborg University
Department of pathology
FINLAND
Finland
HELSINKI
Neurobiology of autism spectrum disorders modeled on patient-specific stem cells.
University of Helsinki
Department of Physiology
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 für Kinderheilkunde I - Stoffwechsellabor
GERMANY
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
GERMANY
Niedersachsen
GÖTTINGEN
ASD-NET: Autism Spectrum Disorders Network
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen
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
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
GERMANY
Niedersachsen
GÖTTINGEN
Neurodegenerative disorders with onset in childhood and adolescence ('childhood dementia') - major causes and therapy approaches
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular
SPAIN
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
SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SWITZERLAND
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
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
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
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
FRANCE
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
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPAN
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
JAPAN
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
JAPAN
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
SPAIN
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
GERMANY
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
SPAIN
Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
Multicentric Research projects
- UZ Leuven - Campus Gasthuisberg
- Department of Human Genetics
- UZ Leuven - Campus Gasthuisberg
- Department of Human Genetics
- UZ Leuven - Campus Gasthuisberg
- Centrum Menselijke Erfelijkheid - UZ Leuven
- CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
- Centre d'étude des Glycopathies
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- 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
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
BELGIUM
VLAAMS BRABANT
LEUVEN
EURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders
BELGIUM
VLAAMS BRABANT
LEUVEN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation
BELGIUM
VLAAMS BRABANT
LEUVEN
EURO-CDG: A European research network for a systematic approach to CDG and related diseases
FRANCE
ILE-DE-FRANCE
PARIS
Research network on CDG syndrome (FINISHED)
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
UNITED KINGDOM
West Midlands
BIRMINGHAM
Midlands Muscle Network
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCE
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
GERMANY
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
GERMANY
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
SPAIN
Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
GERMANY
Sachsen-Anhalt
MAGDEBURG