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Financiado por un miembro del IRDiRC = 
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Proyectos de investigación
FINLANDIA
Finland
HELSINKI
Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center
FINLANDIA
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
FRANCIA
ILE-DE-FRANCE
PARIS
Research on monogenic epilepsies: partial familial, myoclonic juvenile with autosomic recessive transmission, febrile convulsions linked to generalised epilepsy
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"
REINO UNIDO (EL)
Greater London
LONDON
Pathological mechanisms underlying Progressive Myoclonus Epilepsy
The National Hospital For Neurology and Neurosurgery
UCL Institute of Neurology
ALEMANIA
Baden-Württemberg
TÜBINGEN
Brain region-specific epileptogenesis in a conditional mouse model (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie
ESPAÑA
Andalucía
MÁLAGA
Medicina de sistemas aplicada a la identificación de nuevas dianas terapéuticas en enfermedades raras de base genética
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
ESPAÑA
Castilla - León
SALAMANCA
Regulación del metabolismo lipídico por la vía neurona-hígado en la Enfermedad de Batten
Instituto de Biología Funcional y Genómica (USAL-CSIC)
Bioenergética y estrés oxidativo del sistema nervioso
ESPAÑA
Cataluña
ESPLUGUES DE LLOBREGAT
Medicina personalizada en los defectos genéticos de la neurotransmisión en pediatría. Nuevo enfoque basado en el metabolismo de la sinapsis neuronal (enfermedades de la neurotransmisión mediadas por aminoácidos)
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas
ESTADOS UNIDOS
South Dakota
SOUTH DAKOTA
Understanding the impact of gut microbiota on the nuerological phenotypes and pathology in mouse models of childhood neurodegenerative diseases
Sanford Research/University of South Dakota
PEARCE LAB - Department of Pediatrics
ESTADOS UNIDOS
South Dakota
SOUTH DAKOTA
Multifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Function of cep290 protein in retinal ciliopathies and normal photoreceptor structure and function.
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cellular mechanism of adult onset neuronal ceroid lipofuscinosis (ancl) caused by mutations in cysteine string protein-alpha (cspalpha).
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Disease causing mutations in cysteine string protein-alpha disrupt snare-dependent lysosomal exocytosis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Proj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
Disease mechanisms in progressive myoclonus epilepsy (EPM1)
Folkhälsan
Folkhälsan Research Center
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCIA
AUVERGNE-RHONE-ALPES
PRAGUE
Testing various pharmacotherapeutic approaches in mouse models of infantile, late infantile, and juvenile Batten diseases
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCIA
AUVERGNE-RHONE-ALPES
PRAGUE
CRMP2/CLN6/KLC4: Mechanisms that mediate cargo selection and transport in developing & mature axons in Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCIA
AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCIA
AUVERGNE-RHONE-ALPES
PRAGUE
Behavioral and pathological characterization of novel mouse models of the fatal neurodegenerative disorders, infantile, late infantile and juvenile Batten diseases
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCIA
AUVERGNE-RHONE-ALPES
PRAGUE
Multifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
ITALIA
LOMBARDIA
MILANO
Neuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Unità di Espressione Genica, Ciclo Cellulare e Stabilità del Genoma
JAPON
JAPAN
SAITAMA
Identification of genes for temporal lobe epilepsy and investigation of pathological cascade
RIKEN Center for Brain Science
Laboratory for Neurogenetics
NORUEGA
Østlandet
OSLO
Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier
PORTUGAL
CENTRO
CANTANHEDE
Protein-Carbohydrate interaction characterization of Laforina - A human protein involved in lafora Disease
BIOCANT Park
Unidade de Biotecnologia Molecular
PORTUGAL
SUL
LISBOA
Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab
REINO UNIDO (EL)
Merseyside
LIVERPOOL
Changing agendas on sleep, treatment and learning in childhood epilepsy
Alder Hey Children's Hospital
Clinical Trials Research Centre
ESPAÑA
Madrid
MADRID
RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCIA
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
FRANCIA
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
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
Proyectos de investigación multicéntricos
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Instituto de Biomedicina de Valencia (CSIC)
- Unidad de Genética y Medicina Molecular
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- 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
ALEMANIA
Baden-Württemberg
TÜBINGEN
EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
ALEMANIA
Baden-Württemberg
TÜBINGEN
EuroEPINOMICS: Complex genetics of idiopathic epilepsies (CoGIE)
ESPAÑA
Comunidad Valenciana
VALENCIA
BioMeder - Genes, proteínas y rutas de señalización en enfermedades raras
REINO UNIDO (EL)
Greater London
LONDON
EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use
ESPAÑA
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA