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Funded by an IRDiRC member =

Research projects

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers of malignant transformation of osteochondromas.
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Molecular laboratory

ITALY

EMILIA ROMAGNA
BOLOGNA

Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

EMILIA ROMAGNA
BOLOGNA

Evaluation of genotype-phenotype correlation in patients with hereditary multiple exostoses and definition of a diagnostic and clinical course
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

FRANCE

ILE-DE-FRANCE
ORSAY

DCD-CANC-CHILD: design of drug carrier and delivery control for cancer therapy of children
Université Paris-Sud
Institut de Chimie Moléculaire et des Matériaux d'Orsay

ITALY

LOMBARDIA
MILANO

RARECARE: surveillance of rare cancers in Europe (coordination)
Fondazione IRCCS Istituto Nazionale dei Tumori
S.S. di Epidemiologia Valutativa

SPAIN

Madrid
MADRID

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

EPOC: European paediatric oncology off-patent medicines consortium (coordination)
Northern Institute for Cancer Research, Medical School, Newcastle University
Northern Institute for Cancer Research

BELGIUM

VLAAMS BRABANT
LEUVEN

EUROGLYCANET: European network on Congenital Disorders of Glycosylation (coordination)
University Hospitals Leuven - Gasthuisberg
Clinical Genetics Unit

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberMolecular and pathophysiological bases of Congenital Disorders of Glycosylation
USTL - Université des Sciences et Technologies de Lille 1
Unité de glycobiologie structurale et fonctionnelle

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - FR
USTL - Université des Sciences et Technologies de Lille 1
Unité de glycobiologie structurale et fonctionnelle

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - FR
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Centre d'étude des Glycopathies

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - DE (partner no 5)
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Arbeitsgruppe Glykosylierungsdefekte

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - DE (partner no 3)
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

GERMANY

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

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

SPAIN

Madrid
CANTOBLANCO

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - ES
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

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

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

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

UNITED KINGDOM

Oxfordshire
BEGBROKE

Multicentric Research projects