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Funded by an IRDiRC member =

Research projects

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Study of pulmonary cysteine cathepsins in MPS
Faculté de Médecine, Université François Rabelais
Centre d'Etude des Pathologies Respiratoires (CEPR) INSERM U1100

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
AMC - Academisch Medisch Centrum
Afdeling Endocrinologie en Metabolisme

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Biomarker for Hurler disease (BioHurler): An International, multicentre, epidemiological protocol
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Albrecht-Kossel-Institut für Neurodegeneration

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 Pediatrica

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"

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

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

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

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

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

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

Multicentric Research projects