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Funded by an IRDiRC member =

Research projects

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Funded by an IRDiRC memberNovel CRISPR-mediated mutant microglial cell models to better understand the physiopathogenesis of peroxisomal leukodystrophies and identify novel therapeutic targets by NGS RNAseq
Université de Bourgogne
Laboratoire Bio-PeroxIL - EA 7270 Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

NETHERLANDS

Noord-Holland
AMSTERDAM

Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Resolution of the physiological role of human ABCD1 (ALDP) through studies in the yeast S. Cerevisiae and mutant Abcd1 (-/-) mice
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten - Enzymdiagnostiek

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Inflammatory lipid signaling in adrenoleukodystrophy: Integration of multiomics for markers and new therapeutic target identification
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

CANADA

Québec
MONTRÉAL

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

GERMANY

Niedersachsen
GÖTTINGEN

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberLEUKOTREAT: innovative gene and cell therapies in leukodystrophies (WP4) - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Testing the effectiveness the of Nanostring nCounter platform detecting defects of gene expression in patients with undiagnosed rare diseases
Complejo Hospitalario Universitario de Santiago
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

SWITZERLAND

Suisse Romande
LAUSANNE

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects