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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberImproving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Funded by an IRDiRC memberComprehensive delineation and personalized medicine of GRIN-related neurodevelopmental disorders, a rare paediatric encephalopathy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Neurofarmacología y Dolor

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ERN
AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Funded by an IRDiRC memberNeuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT

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GERMANY

Sachsen
DRESDEN

Genetics of cortical malformations
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

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CANADA

Québec
SHERBROOKE

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

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberCharacterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

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FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Funded by an IRDiRC memberHelp configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3
Laboratoire d'Economie de Dijon (LEDi)

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

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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

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NORWAY

Østlandet
SANDVIKA

Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

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PORTUGAL

SUL
LISBOA

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

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SPAIN

Cataluña
SABADELL

Funded by an IRDiRC memberRare 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

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine

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CANADA

Colombie-Britannique
VICTORIA

Funded by an IRDiRC memberSilent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

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CANADA

Ontario
TORONTO

Funded by an IRDiRC memberBeyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDevelopment of a novel functional connectivity imager for early diagnosis of brain development disorders in newborns
Ecole Supérieure de Physique et de Chimie Industrielles (ESPCI Paris)
Ecole Supérieure de Physique et de Chimie Industrielles de la ville de Paris (ESPCI Paris)

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

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GERMANY

Nordrhein-Westfalen
BONN

Systematic identification of disease genes for congenital malformations of the central nervous system
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik

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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

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SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

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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

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SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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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

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Multicentric Research projects