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Funded by an IRDiRC member =

Research projects

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

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberGenCognition: Genetic basis of intellectual disability and other cognitive disorders
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

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 memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - 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 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

FRANCE

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

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

Niedersachsen
GÖTTINGEN

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

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

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 STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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
ANGERS

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

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

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

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

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

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

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

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

UNITED KINGDOM

Cambridgeshire
HINXTON

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

Multicentric Research projects