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Terminated research projects = Funded by an IRDiRC member =
Study involving ERN members in at least two Member States =
Research projects

Québec
MONTRÉAL
Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

Finland
OULU
Childhood-onset genetic brain white matter diseases - novel diseases as tools to study myelin formation, maintenance and demyelination
University of Oulu
Biocenter Oulu

ILE-DE-FRANCE
PARIS
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - FR
Institut de Psychiatrie et Neurosciences Paris (IPNP), Inserm UMR_S 1266
Equipe Interactions entre neurones et oligodendroglies dans la myélinisation et la réparation de la myéline

Baden-Württemberg
TÜBINGEN
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

Baden-Württemberg
TÜBINGEN
Database on Natural History and Biomarkers in Leukodystrophies
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

Baden-Württemberg
TÜBINGEN
Database on Natural History and Biomarkers in Leukodystrophies
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Kinderheilkunde III - Neuropädiatrie, Entwicklungsneurologie, Sozialpädiatrie

Nordrhein-Westfalen
AACHEN
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Aachen
Klinik für Neurologie

Nordrhein-Westfalen
BONN
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy -DE
Universitätsklinikum Bonn (AöR)
Institut für Rekonstruktive Neurobiologie

Sachsen
LEIPZIG
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Neurologie

Sachsen
MITTWEIDA
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Hochschule Mittweida
Datenbank Gruppe - Prof. Dr. T. Kirsten

LOMBARDIA
MILANO
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

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

ILE-DE-FRANCE
PARIS
Neuroglobin 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

LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico

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

Colombie-Britannique
VICTORIA
Silent 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

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

AUVERGNE-RHONE-ALPES
LYON
Characterization 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

GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica

Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de Neurogenética y Medicina Molecular

Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio

Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

Madrid
MADRID
First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz

Madrid
MADRID
Identification 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 Enfermedades raras, mitocondriales y neuromusculares

ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - BE
Institution: Information not provided - BE

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - FR
Institution: Information not provided - FR

Nordrhein-Westfalen
BONN
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - DE
Universitäts-Augenklinik Bonn

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -IT
Institution: Information not provided - IT

SAMOGITIA
ADDRESS: NOT PROVIDED - LT
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -LT
Institution: Information not provided - LT

Kraków
ADDRESS: NOT PROVIDED - PL
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -PL
Institution: Information not provided - PL
Multicentric Research projects
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- VU - Vrije Universiteit, Faculteit Aard- en Levenswetenschappen
- CNCR - Center for Neurogenomics and Cognitive Research
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- A.O.U. Policlinico "G. Martino"
- U.O.C. di Neuropsichiatria Infantile
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
- Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials

Noord-Holland
AMSTERDAM
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy

VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

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

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
EuroVisionNet: Slechtziendheid en Degeneratie: Een draaiboek voor onderzoek naar gezichtsvermogen in Europe (AFGEROND)

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR