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Progetti di ricerca

CANADA

Québec
MONTRÉAL

Finanziato da un ente associato a IRDiRCInborn errors of cobalamin and folate metabolism
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Génétique médicale - Medical Genetics

GERMANIA

Baden-Württemberg
FREIBURG

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Baden-Württemberg
ULM

Finanziato da un ente associato a IRDiRCEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
DRK Baden-Württemberg/ Hessen
Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation

BELGIO

OOST-VLAANDEREN
GENT

Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

FINLANDIA

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
New Children's Hospital
Rare Diseases Unit

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Finanziato da un ente associato a IRDiRCNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCMolecular characterization in patients with diagnosis of primary immunodeficiency (PID) through whole exome sequencing and its functional impact
Hospital Universitario 12 de Octubre
Servicio de Inmunodeficiencias, Lactantes y Pediatría General

SVEZIA

Stockholms läns landsting
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

CANADA

Ontario
OTTAWA

Finanziato da un ente associato a IRDiRCEmerging 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

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCIA

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

ITALIA

LIGURIA
GENOVA

Nuove tecnologie e nuove strategie per lo screening neonatale di massa
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

PAESI BASSI

Utrecht
UTRECHT

Finanziato da un ente associato a IRDiRCCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Laboratorium voor Rode Bloedcel Onderzoek

SPAGNA

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Stockholms läns landsting
STOCKHOLM

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

SVIZZERA

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

CANADA

Ontario
TORONTO

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a IRDiRCFROGH : 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

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

Progetti di ricerca multicentrici