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Funded by an IRDiRC member = Member of a ERN =

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

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

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

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

SPAIN

Madrid
MADRID

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

FRANCE

AUVERGNE-RHONE-ALPES
LYON

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

SPAIN

Cataluña
SABADELL

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

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