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Funded by an IRDiRC member =

Research projects

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberHematopoietic stem cell gene therapy for the treatment of Type I Mucopolysaccharidosis
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

ITALY

LOMBARDIA
MONZA

Funded by an IRDiRC memberEvaluation of stem cells-mediated gene therapy for Hurler's Syndrome
Azienda Ospedaliera San Gerardo
Centro Ricerca "M.Tettamanti"

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberIn vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US

FRANCE

CENTRE-VAL DE LOIRE
TOURS

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberVector safety studies
IRCCS Ospedale San Raffaele
Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberA novel technology to improve Enzyme Replacement Therapy for Mucopolysaccharidosis I and Fabry disease
Amsterdam UMC, locatie AMC
Afdeling Endocrinologie en Metabolisme

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberUpregulation of iduronidase enzyme in mpsi disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNewborn screening for mucopolysaccharidosis (mps1) pilot study
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAav mediated gene therapy to the cns for mps i
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuro-histology & behavior
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSb transposons for gene therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGene therapy for metabolic disorders
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

GERMANY

Niedersachsen
GÖTTINGEN

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberIdentification of molecular targets for the treatment of the skeletal phenotype in lysosomal storage disorders
TIGEM - Telethon Institute of Genetics and Medicine
Cell Biology and Disease Mechanisms

PORTUGAL

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

SWEDEN

Västerbottens läns landsting
UMEÅ

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

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

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

SPAIN

Galicia
A CORUÑA

Funded by an IRDiRC memberStudy of cardiac extracellular matrix proteins involved in the development of ischemic heart disease, idiopathic dilated cardiomyopathy or hypertrophic cardiomyopathy
INIBIC - Instituto de Investigación Biomédica de A Coruña
Grupo de investigación en Biomarcadores cardíacos

SPAIN

Madrid
MADRID

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

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

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

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

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