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Financé par un membre IRDiRC = Membre d'un ERN =

Projets de recherche

ALLEMAGNE

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

ALLEMAGNE

Nordrhein-Westfalen
AACHEN

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

ALLEMAGNE

Nordrhein-Westfalen
BONN

ALLEMAGNE

Sachsen
LEIPZIG

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

CANADA

Québec
MONTRÉAL

Caractérisation clinique, radiologique et génétique de nouvelles formes de leucodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

ESPAGNE

Cataluña
ESPLUGUES DE LLOBREGAT

FRANCE

ILE-DE-FRANCE
PARIS

Financé par un membre IRDiRCNG4LEUKO: 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

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCNG4LEUKO: 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

ESPAGNE

Madrid
MADRID

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

PORTUGAL

NORTE
PORTO

Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
OTTAWA

Financé par un membre IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Financé par un membre IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

CANADA

Ontario
TORONTO

ESPAGNE

Madrid
MADRID

Financé par un membre IRDiRCIdentification 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
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SUEDE

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SUISSE

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

Projets de recherche multicentriques