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Förderung durch ein IRDiRC-Mitglied = ERN-Mitglied =
Forschungsprojekt(e)

DEUTSCHLAND
Berlin
BERLIN
Funktionelle Charakterisierung der Proteinkinase CDKL5
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

ITALIEN
LAZIO
ROMA
Innovative therapeutic approaches for CDKL5 Deficiency Disorder, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanitŕ
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

DEUTSCHLAND
Niedersachsen
GÖTTINGEN
ASD-NET: Netzwerk für Autismus-Spektrum-Störungen
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen

FINNLAND
Finland
HELSINKI
Neurobiology of autism spectrum disorders modeled on patient-specific stem cells.
University of Helsinki
Department of Physiology

KANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

NORWEGEN
Řstlandet
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

SPANIEN
Cataluńa
SABADELL
Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí
Laboratorio de Genética de la UDIAT-CD

SPANIEN
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

FINNLAND
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu

FRANKREICH
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

FRANKREICH
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

ITALIEN
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanitŕ
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

KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

SPANIEN
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

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multizentrische Forschungsprojekte
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
- 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
- University of British Columbia
- Maternal Infant Child and Youth Research Network

NIEDERLANDE
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
EPICURE: Funktionelle Genomik und Neurobiologie von Epilepsien : Eine Basis für neue Therapeutische Strategien

DEUTSCHLAND
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases

ITALIEN
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

VEREINIGTES KONIGREICH
Greater London
LONDON
EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use

FRANKREICH
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

FRANKREICH
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

KANADA
Colombie-Britannique
VANCOUVER