Skip to
  1. Homepage
  2. Research and trials
  3. Research projects
Search by disease/gene

Search by disease/gene

*
(*) mandatory field


 

Other search option(s)

29 matching term(s)

Partnership : Academics = Academics, Industrials = Industrials, Financial investitors = Financial investitors

    • CANADA
    • Ontario
    • OTTAWA
    • AcademicsIndustrials
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • Children's Hospital of Eastern Ontario
    • Newborn Screening Ontario
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • AcademicsIndustrials
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • University of Ottawa
    • Department of Epidemiology and Community Medicine
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Pain impact in children affected by lysosomal diseases
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Unité douleur et Soins Palliatifs
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Evaluation of diagnosis and treatment protocols and long-term follow-up of errors of metabolism
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Unité fonctionnelle métabolisme
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Evaluation of diagnosis and treatment protocols and long-term follow-up of errors of metabolism
    • CHU Paris - Hôpital Robert Debré
    • Service de neurologie pédiatrique et des maladies métaboliques
    • More details
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • Sialidase Neu4: new therapy for lysosomal diseases
    • CHU de Toulouse - Hôpital Purpan
    • Laboratoire de biochimie
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Comparative study of residual rate of intramonocytes beta-glucocerebrosidase in patients with Gaucher disease treated by different imiglucerase
    • Hôpital Saint-Joseph
    • Laboratoire d'immunologie
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Auto-antibodies prevalence during Gaucher disease and role of the CD1 molecule in the immune event of this disease
    • Hôpital Saint-Joseph
    • Laboratoire d'immunologie
    • More details
    • GERMANY
    • Mecklenburg-Vorpommern
    • ROSTOCK
    • Biomarker for Gaucher Disease (BioGaucher): An International, multicentre, epidemiological protocol
    • Universitätsmedizin Rostock
    • Albrecht-Kossel-Institut für Neurodegeneration
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Liver cell therapy in selected congenital metabolic diseases
    • Medizinische Hochschule Hannover
    • Arbeitsgruppe Stoffwechselerkrankungen und Neuropädiatrie
    • More details
    • HUNGARY
    • Észak-Magyarország
    • BUDAPEST
    • Molecular prognostic factors in pediatric diseases
    • Semmelweis University
    • SOTE Pediatric clinic II
    • More details
    • IRELAND
    • County Dublin
    • DUBLIN
    • A prospective study on the numbers of Irish Travellers attending the metabolic clinic in Dublin
    • Our Lady's Children's Hospital
    • National Centre for Medical Genetics
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • EUCLYD: gene therapy of animal models of lysosomal storage diseases (WP5)
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Modulation of Cellular Clearance in Lysosomal Storage Disorders
    • TIGEM - Telethon Institute of Genetics and Medicine
    • Laboratorio di Ricerca
    • More details
    • 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
    • More details
    • ITALY
    • LIGURIA
    • GENOVA
    • Molecular characterization of metabolic-genetic diseases
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche
    • More details
    • KOREA, REPUBLIC OF
    • KOREA, REPUBLIC OF
    • SEOUL
    • Development of cell and gene therapy for blood disorders, in particularly Gaucher and Blackfan-Diamond diseases
    • Seoul National University Hospital
    • Molecular Diagnostics Laboratory
    • More details
    • NETHERLANDS
    • Noord-Holland
    • AMSTERDAM
    • Health technology assessment in Gaucher disease
    • AMC - Academisch Medisch Centrum
    • Afdeling Endocrinologie en Metabolisme
    • More details
    • NETHERLANDS
    • Zuid-Holland
    • ROTTERDAM
    • EUCLYD: natural history of lysosomal diseases and enzyme replacement therapy (WP2)
    • Erasmus MC - Erasmus Medisch Centrum
    • Afdeling Klinische Genetica
    • More details
    • 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
    • More details
    • 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
    • More details
    • 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
    • More details
    • SPAIN
    • Andalucía
    • SEVILLA
    • Sp2 iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders [Gaucher disease, GM1 gangliosidosis and -mannosidosis]
    • Universidad de Sevilla. Facultad de Química
    • Departamento de Química Orgánica
    • More details
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Gaucher disease type 1. Phenotypic variability and study of bone changes using genomic, transcriptomic and proteomic techniques
    • Universidad de Zaragoza. Facultad de Ciencias
    • Laboratorio de Bioquímica y Biología Molecular y Celular
    • More details
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Gaucher disease type 1. Phenotypic variability and study of bone changes using genomic, transcriptomic and proteomic techniques
    • Hospital Universitario La Fe - Campanar
    • Grupo para el Estudio de la Hemostasia, Trombosis, Arteriosclerosis y Biología Vascular
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • EUCLYD: substrate reduction therapy for glycospingolipidoses and mucopolysaccharidoses (WP4)
    • Addenbrooke's Hospital
    • Lysosomal Disorders Unit
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Development of diagnostic methods for lysosomal storage diseases
    • UCL Institute of Child Health, University College London
    • Biochemistry Research Group
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details