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Funded by an IRDiRC member =

Research projects

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

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

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberERA-NET TRANSCAN: TORPEDO - Targeting Of Resistance in PEDiatric Oncology (coordination)
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

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

Funded by an IRDiRC memberMassive sequencing contributes to decipher the genetic bases of families with rare tumors
Centro Nacional de Investigaciones Oncológicas (CNIO)
Grupo de Genética Humana

SPAIN

Madrid
MADRID

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

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

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

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
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

Berlin
BERLIN

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
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
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

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

Madrid
CANTOBLANCO

Funded by an IRDiRC memberGenetic Neurometabolic Disorders: Advances in the Diagnosis, pathophysiology and development of protein stabilization therapies
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
John Walton Muscular Dystrophy Research Centre, 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

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 Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

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 KINGDOM

Cambridgeshire
HINXTON

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

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