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Progetti di ricerca

FRANCIA

CENTRE-VAL DE LOIRE
TOURS

Study of pulmonary cysteine cathepsins in MPS
Faculté de Médecine, Université de Tours François Rabelais
Équipe 2 : « Mécanismes Protéolytiques dans l'Inflammation »

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCOptimizing aav vectors for central nervous system transduction
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Finanziato da un ente associato a IRDiRCNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

CANADA

Québec
MONTRÉAL

Finanziato da un ente associato a IRDiRCMucopolysaccharidosis IIIC as a protein folding disease: using animal models to study pathophysiology and explore potential therapeutic solutions
Centre hospitalier universitaire Sainte-Justine
Department of Medical Genetics / Département de génétique médicale

FRANCIA

GRAND-EST
VANDOEUVRE-LÈS-NANCY

FRANCIA

HAUTS-DE-FRANCE
AMIENS

GERMANIA

Hamburg
HAMBURG

A prospective, observational study of Mucopolysaccharidosis type 3B - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCAn observational, prospective, multicenter, natural history study of patients with Mucopolysaccharidosis type 3A (Sanfilippo syndrome type A) - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Niedersachsen
GÖTTINGEN

PORTOGALLO

NORTE
PORTO

Less is more _ Substrate Reduction Rherapy for Mucopolysaccharidoses through RNAi
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Finanziato da un ente associato a IRDiRCActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) - ES
Complejo Hospitalario Universitario de Santiago
Departamento de Pediatría

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

PORTOGALLO

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

PORTOGALLO

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

Ontario
OTTAWA

Finanziato da un ente associato a 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

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a IRDiRCFROGH : 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

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

ITALIA

LIGURIA
GENOVA

Nuove tecnologie e nuove strategie per lo screening neonatale di massa
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SPAGNA

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Stockholms läns landsting
STOCKHOLM

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

SVIZZERA

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

Progetti di ricerca multicentrici