Orphanet: Search by disease/gene
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Funded by an IRDiRC member = Member of a ERN =

Research projects

FINLAND

Finland
HELSINKI

Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center

FRANCE

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"

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberPathological mechanisms underlying Progressive Myoclonus Epilepsy
The National Hospital For Neurology and Neurosurgery
UCL Institute of Neurology

FINLAND

Finland
HELSINKI

Disease mechanisms in progressive myoclonus epilepsy (EPM1)
Folkhälsan
Folkhälsan Research Center

FINLAND

Finland
HELSINKI

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberMultifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

GERMANY

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNeuroserpin 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

JAPAN

JAPAN
SAITAMA

Funded by an IRDiRC memberIdentification of genes for temporal lobe epilepsy and investigation of pathological cascade
RIKEN Center for Brain Science
Laboratory for Neurogenetics

NORWAY

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

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

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

Castilla - León
SALAMANCA

Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
Instituto de Biología Funcional y Genómica (USAL-CSIC)
Bioenergética y estrés oxidativo del sistema nervioso

UNITED KINGDOM

Merseyside
LIVERPOOL

Funded by an IRDiRC memberChanging agendas on sleep, treatment and learning in childhood epilepsy
Alder Hey Children's Hospital
Clinical Trials Research Centre

UNITED STATES

South Dakota
SOUTH DAKOTA

UNITED STATES

South Dakota
SOUTH DAKOTA

Funded by an IRDiRC memberMultifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Madrid
MADRID

CANADA

Ontario
TORONTO

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : 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

Funded by an IRDiRC memberFROGH : 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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects