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62 Result(s)

Funded by an IRDiRC member =

    40 Research projects; 22 Multicentric Research projects

    Research projects

    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Diagnosis and management of ectodermal dysplasia in neonates and infants
    • Medizinische Universität Innsbruck
    • Stoffwechsellabor der Universitätsklinik für Kinder- und Jugendheilkunde
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Unraveling pathophysiologic and genetic causes of primary immune deficiencies
    • Ghent University Hospital - UZGent
    • Clinical Immunology Research Lab
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Belgian Medical Genomics Initiative (BeMGI)
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Funded by an IRDiRC member
    • Inherited bone marrow failure syndromes: from genomic discoveries to biology
    • Hospital for Sick Children, Research Institute
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • ESTONIA
    • Tartu
    • TARTU
    • Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation (EFT 5467).
    • University of Tartu
    • Institute of Molecular and Cell Biology
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Genetics of primary immunodeficiency diseases
    • Biomedicum Helsinki 2U
    • Institute for Molecular Medicine Finland
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
    • CHU Paris-GH St-Louis Lariboisière F-Widal - Hôpital Saint-Louis
    • Service d'hématologie pédiatrique
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Funded by an IRDiRC member
    • RNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies
    • Faculté de médecine Paris-Descartes, Site Necker
    • Laboratoire de Cristallographie & RMN biologiques
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Funded by an IRDiRC member
    • Immune-Rep: Consequences of DNA repair and telomere defects on the function of the Immune System: application to CVID and immune deficiencies with dysmorphic syndromes
    • IMAGINE - Institut des Maladies Génétiques
    • Dynamique du génome et du système immunitaire
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Funded by an IRDiRC member
    • A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
    • CCI am Universitätsklinikum Freiburg
    • Centrum für Chronische Immundefizienz
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
    • Zentrum für Kinder- und Jugendmedizin Freiburg
    • Klinik für Pädiatrische Hämatologie und Onkologie
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • PID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
    • Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control
    • Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
    • Max-Planck-Institut für molekulare Genetik
    • Abteilung Human Molecular Genetics
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • Funded by an IRDiRC member
    • PID- Net: Reprogramming platform and induced pluripotent disease models for the development of novel therapeutics for PID
    • Medizinische Hochschule Hannover
    • Abteilung Experimentelle Hämatologie
    • More details
    • GERMANY
    • Saarland
    • HOMBURG
    • CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments (coordination)
    • Universitätsklinikum des Saarlandes
    • Forschungsstelle für Molekulares Imaging und Screening
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Drosophila melanogaster minifly mutants: a model system for the study of the molecular basis of the X-linked dyskeratosis congenita
    • Università degli Studi Federico II
    • Laboratorio di Genetica Molecolare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • GENESKIN: European network on rare genetic skin diseases (coordination)
    • Istituto Dermopatico dell'Immacolata - IRCCS
    • Laboratorio di Biologia Molecolare e Cellulare
    • More details
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • Molecular analysis of families cosegregating X-linked mental retardation
    • Istituto Auxologico Italiano
    • Laboratorio di Biologia Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Study of improving Safety of Lentiviral Gene Transfer
    • IRCCS Ospedale San Raffaele
    • Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Gene therapy strategies for Antigen-specific tolerance induction in vivo
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Identification of the function of genes muteted in X-linked mental retardation
    • Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
    • Laboratorio di Farmacologia Molecolare
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Clinical and genetic characterization of new types of Ectodermal Dysplasias
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genetics basis of Mental Retardation
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • U.O.C.di Pediatria e Genetica Medica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • Laboratorio di Diagnosi Genetica
    • More details
    • PORTUGAL
    • NORTE
    • PORTO
    • Integrated Micro-Nano-OPTO Fluidic systems for high-content diagnosis and studies of rare cancer cells
    • Instituto de Patologia e Imunologia Molecular da Universidade do Porto
    • Genética de Tumores
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
    • IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
    • Grupo de respuesta inmune innata
    • More details
    • SPAIN
    • Murcia
    • EL PALMAR
    • Funded by an IRDiRC member
    • Modeling the impact of telomerase in dyskeratosis congenita: New therapeutic targets and treatments
    • Hospital Clínico Universitario Virgen de la Arrixaca
    • Departamento de Cirugía Experimental
    • More details
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Funded by an IRDiRC member
    • Contribution of mutations in X linked genes versus mutations in autosomes in pairs of brothers with intellectual disabilities without etiology, and no other family history. Study by Next Generation Sequencing
    • Hospital Universitario Cruces - Osakidetza
    • Servicio de Genética
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • HUDDINGE
    • Genetic basis of immunodeficiency diseases
    • Karolinska Institutet - Huddinge
    • Department of laboratory medicine
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
    • Addenbrooke's Hospital
    • Department of Medicine - Renal services
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • NIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
    • Addenbrooke's Hospital
    • Academic Department of Medical Genetics
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • 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
    • The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
    • Barts and The London School of Medicine and Dentistry
    • Centre for Paediatrics
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • 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
  • Multicentric Research projects

    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • Maternal Infant Child and Youth Research Network (MICYRN)
    • University of British Columbia
    • Maternal Infant Child and Youth Research Network
    • More details
    • FINLAND
    • Finland
    • TAMPERE
    • IDR: ImmunoDeficiency Resource
    • University of Tampere
    • Institute of Biomedical Technology
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • GM: Genodermatosis and Mediterranean
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Service de dermatologie
    • More details
    • GERMANY
    • Bayern
    • ERLANGEN
    • Funded by an IRDiRC member
    • MRNET: German Mental Retardation Network
    • Humangenetisches Institut am Universitätsklinikum Erlangen
    • Humangenetisches Institut
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • PID-NET: German Network on Primary Immunodeficiency Diseases
    • Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • BNE: BrainNet Europe II: European brain tissue bank
    • Zentrum für Neuropathologie und Prionforschung (ZNP)
    • Zentrum für Neuropathologie und Prionforschung der LMU München
    • More details
    • GERMANY
    • Saarland
    • HOMBURG
    • Funded by an IRDiRC member
    • CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments
    • Universitätsklinikum des Saarlandes
    • Forschungsstelle für Molekulares Imaging und Screening
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • UnRareNet:A muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Ambulatorio Polispecialistico per le Malattie Rare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • GENESKIN: European network on rare genetic skin diseases
    • Istituto Dermopatico dell'Immacolata - IRCCS
    • Laboratorio di Biologia Molecolare e Cellulare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • PERSIST: Persisting transgenesis
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Istituto San Raffaele Telethon per la Terapia Genica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • CELL-PID: advanced cell-based therapies for the treatment of primary immunodeficiency
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • SICILIA
    • MESSINA
    • CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
    • A.O.U. Policlinico "G. Martino"
    • U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • MOROCCO
    • Casablanca
    • CASABLANCA
    • Morocan study group on primary immunodeficiency
    • CHU Ibn Rochd
    • Service de pédiatrie 1 - Hopital d'enfants
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • GENCODYS - Genetic and Epigenetic Networks in Cognitive Dysfunction
    • Radboudumc - Radboud universitair medisch centrum
    • Afdeling Genetica
    • More details
    • NORWAY
    • Vestlandet
    • BERGEN
    • NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
    • Haukeland University Hospital
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
    • Centro de Regulación Genómica
    • Programa Genes y Enfermedad
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • Funded by an IRDiRC member
    • New E-Health Services For The European Reference Network On Rare Anaemias (E-Enerca)
    • Hospital Clínic i Provincial de Barcelona
    • Unitat d'Eritropatologia (Red Cell Pathology Unit. Biological Diagnostic Centre)
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • HUDDINGE
    • EURO-GENE-SCAN: European genetic disease diagnostics -
    • Karolinska Institutet - Huddinge
    • Department of laboratory medicine
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies
    • Royal Free Hospital
    • Department of Immunology and Molecular Pathology
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • UK Primary Immunodeficiency Network
    • The Great North Children's Hospita, Royal Victoria Infirmary
    • Regional Department of Immunology
    • More details