Search for a research project
Other search option(s)
64 Result(s)
Funded by an IRDiRC member = 
Research projects
ITALY
LAZIO
ROMA
Impairment of GABAergic signaling and synaptic plasticity as key determinants for neurodevelopmental disorders: a study from NL3R451C knock-in mice, an animal model of autism
European Brain Research Institute-Rita Levi Montalcini
ITALY
LOMBARDIA
PAVIA
High resolution array-CGH and gene expression analyses in autism spectrum disorders
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia
SWEDEN
Stockholms läns landsting
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SWEDEN
Västra Götalandsregionen
GÖTEBORG
Molecular and functional studies of neuromuscular disorders related to the sarcomeric proteins
Göteborg University
Department of pathology
FINLAND
Finland
HELSINKI
Defects of early differentiation of patient-specific neural progenitors in autism spectrum disorder
University of Helsinki
Department of Physiology
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Targeted high-throughput sequencing sequencing diagnostic strategy for autistim spectrum disorders with or without intellectual disability
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCE
HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ
Molecular and pathophysiological bases of Congenital Disorders of Glycosylation
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle
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
EURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - DE (partner no 5)
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Arbeitsgruppe Glykosylierungsdefekte
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 - Arbeitsgruppe Glykosylierungsdefekte
GERMANY
Berlin
BERLIN
EURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - DE (partner no 3)
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik
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
Hessen
MARBURG
ASD-NET: Autism spectrum disorder throughout the lifespan - More effective care through valid diagnoses and a better understanding of etiology
Universitätsklinik für Kinder- und Jugendpsychiatrie
Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie
GERMANY
Nordrhein-Westfalen
DÜSSELDORF
ASD-NET: Analysis of current disease-related costs and models of efficient care for autism spectrum disorders
Kliniken der Heinrich-Heine Universität Düsseldorf
Abteilung für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie
GERMANY
Nordrhein-Westfalen
MÜNSTER
CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
SPAIN
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Effects of maternal immune activation on gabrb3-deficient neocortical progenitors
Institution: Information not provided - US
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
FRANCE
HAUTS-DE-FRANCE
LILLE
ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement
FRANCE
PAYS DE LA LOIRE
NANTES
In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire
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
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
SPAIN
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
SWEDEN
Stockholms läns landsting
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SWITZERLAND
Suisse Romande
LAUSANNE
Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research
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
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
ANGERS
Omics for Improving the Diagnosis of Rare Intellectual Disabilities
CHU d'Angers
Service de génétique
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
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALY
LAZIO
ROMA
Primary Prevention and Surveillance of Congenital Anomalies
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
SWITZERLAND
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
Multicentric Research projects
- 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
- 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
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- St James's University Hospital
- Department of Biochemical Genetics
- 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
- Humangenetisches Institut am Universitätsklinikum Erlangen
- Humangenetisches Institut
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- 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
EUROGLYCANET: European network on Congenital Disorders of Glycosylation
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
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
UNITED KINGDOM
West Yorkshire
LEEDS
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
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
GERMANY
Bayern
ERLANGEN
MRNET: German Mental Retardation Network -terminated
GERMANY
Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank
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