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

Research projects

CANADA

Québec
MONTRÉAL

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNG4LEUKO: 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

GERMANY

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

GERMANY

Baden-Württemberg
TÜBINGEN

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

GERMANY

Baden-Württemberg
TÜBINGEN

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

GERMANY

Nordrhein-Westfalen
AACHEN

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

GERMANY

Nordrhein-Westfalen
BONN

GERMANY

Sachsen
LEIPZIG

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

GERMANY

Sachsen
MITTWEIDA

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNG4LEUKO: 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

CANADA

Québec
SHERBROOKE

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

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

Cataluña
BARCELONA

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

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

FRANCE

AUVERGNE-RHONE-ALPES
LYON

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberAnalysis 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

SPAIN

Andalucía
SEVILLA

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

SPAIN

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

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

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

SPAIN

Madrid
MADRID

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE

FRANCE

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

LITHUANIA

SAMOGITIA
ADDRESS: NOT PROVIDED - LT

POLAND

Kraków
ADDRESS: NOT PROVIDED - PL

Multicentric Research projects