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51 Result(s)

Funded by an IRDiRC member =

Research projects

BELGIUM

OOST-VLAANDEREN
GENT

Belgian Medical Genomics Initiative (BeMGI)
Center for Medical Genetics Ghent

BELGIUM

VLAAMS BRABANT
LEUVEN

Genetic testing in Europe - Network for the further development, harmonization, validation and standardization of services
University Hospitals Leuven - Gasthuisberg
Laboratory for Molecular Diagnostics

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

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberGRIP: Global Research in Paediatrics - CA
The Hospital for Sick Children
Department of Paediatrics

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberGRIP: Global Research in Paediatrics - CA
The Hospital for Sick Children
Division of Clinical Pharmacology and Toxicology, Department of Paediatrics

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberComputerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
University of Toronto
Department of Computer Science

FRANCE

NORD-PAS-DE-CALAIS
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Biomarker for Gaucher Disease (BioGaucher): An International, multicentre, epidemiological protocol
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Albrecht-Kossel-Institut für Neurodegeneration

ITALY

CAMPANIA
NAPOLI

EUCLYD: gene therapy of animal models of lysosomal storage diseases (WP5)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberModulation of Cellular Clearance in Lysosomal Storage Disorders
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

FRIULI VENEZIA GIULIA
UDINE

Clinical history and long-term cost-effectiveness of enzyme replacement therapy for Gaucher disease in Italy
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALY

LAZIO
ROMA

The policy of public health genomics in Italy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberStudy of improving Safety of Lentiviral Gene Transfer
IRCCS Ospedale San Raffaele
Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberCell therapy strategies for tolerance induction in humans
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberGene therapy strategies for Antigen-specific tolerance induction in vivo
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica Pediatrica

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - NL
AMC - Academisch Medisch Centrum
Afdeling Klinische Epidemiologie in de Kindergeneeskunde

NETHERLANDS

Utrecht
SOEST

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - NL
VSOP
Vereniging Samenwerkende Ouder- en Patiëntenorganisaties

NETHERLANDS

Zuid-Holland
ROTTERDAM

EUCLYD: natural history of lysosomal diseases and enzyme replacement therapy (WP2)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Klinische Genetica

NETHERLANDS

Zuid-Holland
ROTTERDAM

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - NL
Erasmus MC - Erasmus Medisch Centrum
Vakgroep Medische Informatica

POLAND

Warszawa
WARSAW

Funded by an IRDiRC memberGRIP: Global Research in Paediatrics
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Klinika Anestezjologii i Intensywnej Terapii

PORTUGAL

NORTE
PORTO

The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

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

País Vasco
BARAKALDO

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - ES
Hospital Universitario Cruces - Osakidetza
Unidad Neonatal

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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 London
LONDON

GRIP: Global Research in Paediatrics
St George's Hospital University of London
Institute of Infection and immunity

UNITED KINGDOM

Greater London
LONDON

GRIP: Global Research in Paediatrics
University College London
School of Pharmacy

UNITED KINGDOM

Merseyside
LIVERPOOL

GRIP: Global Research in Paediatrics
Liverpool Women's NHS Foundation Trust
Department of Women's and Children's Health

UNITED KINGDOM

Oxfordshire
BEGBROKE

UNITED KINGDOM

West Midlands
BIRMINGHAM

Multicentric Research projects