Skip to
  1. Homepage
  2. Research and trials
  3. Research projects
Search by disease/gene

Search by disease/gene

*
(*) mandatory field


 

Other search option(s)

86 Result(s)

Funded by an IRDiRC member =

    51 Research projects; 35 Multicentric Research projects

    Research projects

    • Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications
    • Center for Medical Genetics Ghent
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Belgian Medical Genomics Initiative (BeMGI)
    • Center for Medical Genetics Ghent
    • 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
    • Funded by an IRDiRC member
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • Children's Hospital of Eastern Ontario
    • Newborn Screening Ontario
    • More details
    • CANADA
    • Ontario
    • OTTAWA
    • Funded by an IRDiRC member
    • Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
    • University of Ottawa
    • Department of Epidemiology and Community Medicine
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Funded by an IRDiRC member
    • Mitochondria, metabolism and disease
    • Biocenter 1, University of Helsinki
    • Institute of Biotechnology
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Genetics of primary immunodeficiency diseases
    • Biomedicum Helsinki 2U
    • Institute for Molecular Medicine Finland
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Molecular basis of mitochondrial disorders
    • University of Helsinki
    • Molecular Neurology
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Funded by an IRDiRC member
    • Mechanisms and consequences of mitochondrial translation defects
    • University of Helsinki
    • Department of Medical Genetics
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Funded by an IRDiRC member
    • Mitochondria, metabolism and disease
    • University of Tampere
    • Institute of Biomedical Technology
    • More details
    • FINLAND
    • Finland
    • TAMPERE
    • Funded by an IRDiRC member
    • DEPLETMITO: influence of the amount of mitochondrial DNA on energy metabolism: implications for mitochondrial diseases
    • Université Bordeaux 2 - Victor Ségalen
    • Physiopathologie mitochondriale
    • More details
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
    • Généthon
    • Généthon - Banque d'ADN et de cellules
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • EVRY
    • NMD-CHIP: chip design, synthesis and technical validation for known genes involved in neuromuscular diseases (WP2)
    • CHU de Marseille - Hôpital de la Timone
    • Laboratoire de génétique moléculaire
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Funded by an IRDiRC member
    • GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options (coordination)
    • Helmholtz Zentrum München
    • Institut für Humangenetik
    • 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
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options (partner no 1)
    • LMU Klinikum der Universität München - Campus Großhadern
    • Arbeitsgruppe Neurogenetik
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • PID-NET: Primary immunodeficiencies predisposing to severe bacterial infections
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Clinical and genetic presentation of juvenile mitochondriopathies
    • Universitätsmedizin Göttingen
    • Klinik für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Intrauterine development of energy metabolism
    • Medizinische Hochschule Hannover
    • Arbeitsgruppe Stoffwechselerkrankungen und Neuropädiatrie
    • 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
    • Niedersachsen
    • HANNOVER
    • Investigation of mitochondrial dysfunction with genomic and biochemical analysis
    • SU - Institute of Genomic Medicine and Rare Disorders
    • Institute of Genomic Medicine and Rare Disorders Semmelweis University
    • More details
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Involvement of mitochondrial proteins in autophagy: a possible link with mitochondrial disorders
    • Università degli Studi di Ferrara
    • Dipartimento di Medicina Sperimentale e Diagnostica
    • More details
    • ITALY
    • EMILIA ROMAGNA
    • FERRARA
    • Funded by an IRDiRC member
    • Construction of a database for a nation-wide italian collaborative network of mitochondrial diseases
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina 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
    • New technologies and new strategies for neonatal screening
    • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Laboratorio per lo Studio degli Errori Congeniti del Metabolismo
    • More details
    • ITALY
    • LIGURIA
    • GENOVA
    • Identification and characterization of nuclear genes responsible for human mitochondrial disorders
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Therapeutic strategies to combat mitochondrial disorders
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica 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
    • Cell therapy strategies for tolerance induction in humans
    • 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
    • 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
    • Validation of a neuromuscular individualized quality of life measure in Italy
    • IRCCS Policlinico San Donato
    • U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
    • More details
    • ITALY
    • LOMBARDIA
    • SAN DONATO MILANESE
    • Funded by an IRDiRC member
    • Construction of a database for a nation-wide italian collaborative network of mitochondrial diseases
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • Laboratorio di Neurobiologia Clinica e Neurochimica
    • More details
    • ITALY
    • TOSCANA
    • PISA
    • Funded by an IRDiRC member
    • Construction of a database for a nation-wide italian collaborative network of mitochondrial diseases
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • Neuromuscular Laboratory
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Dipartimento di Scienze Biomediche
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • Therapeutic strategies to combat mitochondrial disorders
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Dipartimento di Scienze Biomediche Sperimentali
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • McArm study: development of a motion controlled arm support
    • Radboudumc - Oost
    • Afdeling Revalidatie
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Funded by an IRDiRC member
    • New mutations in the mitocondrial DNA associated to diseases: characterization in transmitochondrial cybrids differentiated to neurons and myocites
    • Universidad de Zaragoza. Facultad de Veterinaria
    • Departamento de Bioquímica y Biología Molecular y Celular (F. Veterinaria)
    • More details
    • SPAIN
    • Aragón
    • ZARAGOZA
    • 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
    • Madrid
    • MADRID
    • Genetic basis of immunodeficiency diseases
    • Karolinska Institutet - Huddinge
    • Department of laboratory medicine
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • HUDDINGE
    • Inborn errors of endocrinology and metabolism
    • Karolinska Institutet - Solna
    • Department of Molecular Medicine and Surgery
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • Clinical and molecular genetics study of Barth syndrome
    • St Michael's Hospital
    • Department of Clinical Genetics
    • More details
    • UNITED KINGDOM
    • Avon
    • BRISTOL
    • 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
    • Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
    • Guy's Hospital
    • Health Psychology Section, Psychology Department, Institute of Psychiatry
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
    • PEALS Research Centre, Newcastle University, 4th Floor
    • Policy, Ethics and Life Sciences (PEALS) Research Centre
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • 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
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
  • Multicentric Research projects

    • Maternal Infant Child and Youth Research Network (MICYRN)
    • University of British Columbia
    • Maternal Infant Child and Youth Research Network
    • More details
    • CANADA
    • Colombie-Britannique
    • VANCOUVER
    • CIMDRN- Canadian Inherited Metabolic Diseases Research Network
    • University of Ottawa
    • Faculty of Medicine -
    • More details
    • CANADA
    • Ontario
    • OTTAWA, ONTARIO
    • IDR: ImmunoDeficiency Resource
    • University of Tampere
    • Institute of Biomedical Technology
    • More details
    • FINLAND
    • Finland
    • TAMPERE
    • MeetOChondrie: research group on mitochondria and related disorders
    • Université Bordeaux 2 - Victor Ségalen
    • Physiopathologie mitochondriale
    • More details
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • MYORES: European Muscle Development Network (FINISHED)
    • Faculté de médecine de Clermont-Ferrand
    • Laboratoire de Génétique, Reproduction et Développement
    • More details
    • FRANCE
    • AUVERGNE
    • CLERMONT-FERRAND
    • Funded by an IRDiRC member
    • ENDOSTEM: Activation of vasculature associated stem cells and muscle stem cells for the repair and maintenance of muscle tissue
    • Université Pierre et Marie Curie - Paris 6
    • Groupe Myologie - UMR S 787
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Réseau Sud-Ouest des erreurs innées du métabolisme
    • CHU de Toulouse - Hôpital Purpan
    • Laboratoire de biochimie
    • More details
    • FRANCE
    • MIDI-PYRENEES
    • TOULOUSE
    • French network on mitochondrial diseases
    • CHU d'Angers
    • UF de Génétique Moléculaire
    • More details
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders
    • CHU de Marseille - Hôpital de la Timone
    • Laboratoire de génétique moléculaire
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies
    • CCI am Universitätsklinikum Freiburg
    • Centrum für Chronische Immundefizienz
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • Funded by an IRDiRC member
    • NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases
    • Institut für Medizinische Genetik und angewandte Genomik Tübingen
    • Institut für Medizinische Genetik und angewandte Genomik
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • mitoNET: german Network for mitochondrial diseases
    • Deutsches MITONET e.V. c/o Dr. Bert Obermaier-Kusser
    • Deutsches MITONET e.V.
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • GENOMIT: Mitochondrial disorders - Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models
    • Helmholtz Zentrum München
    • Institut für Humangenetik
    • 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
    • Funded by an IRDiRC member
    • mitoNET: german Network for mitochondrial diseases
    • LMU Klinikum der Universität München - Campus Großhadern
    • Arbeitsgruppe Neurogenetik
    • 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
    • Bayern
    • MÜNCHEN
    • EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen
    • Charité / Max-Delbrück-Centrum für Molekulare Medizin
    • Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Funded by an IRDiRC member
    • Competence Network for Congenital Heart Defects
    • Kompetenznetz Angeborene Herzfehler
    • Kompetenznetz Angeborene Herzfehler - Netzwerkzentrale
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Funded by an IRDiRC member
    • BMFS: Network for Congenital Bone Marrow Failure Syndromes
    • Medizinische Hochschule Hannover
    • Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • 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
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Morocan study group on primary immunodeficiency
    • CHU Ibn Rochd
    • Service de pédiatrie 1 - Hopital d'enfants
    • More details
    • MOROCCO
    • Casablanca
    • CASABLANCA
    • MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
    • AZM - Academisch Ziekenhuis Maastricht
    • Laboratorium Clinical Genomics
    • More details
    • NETHERLANDS
    • Limburg
    • MAASTRICHT
    • ENMC: European NeuroMuscular Centre
    • European NeuroMuscular Centre
    • More details
    • NETHERLANDS
    • Utrecht
    • BAARN
    • CIEN: Spanish Network for Cooperative Research in Neurological diseases
    • Hospital Universitari de Bellvitge
    • Unidad de Neuropatología
    • More details
    • SPAIN
    • Cataluña
    • L'HOSPITALET DE LLOBREGAT
    • Network for clinical and epidemiological study on mitocondrial respiratory chain diseases in Spain (FINISHED)
    • Instituto de Investigación Hospital 12 de Octubre
    • Laboratorio de Enfermedades Raras, Mitocondriales y Neuromusculares
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Funded by an IRDiRC member
    • TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
    • Oxford University Begbroke Science Park
    • Zyoxel Limited
    • More details
    • UNITED KINGDOM
    • Oxfordshire
    • BEGBROKE
    • ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • MetBioNet - National Metabolic Biochemistry Network
    • The Sheffield Children's Hospital
    • Department of Clinical Chemistry
    • More details
    • UNITED KINGDOM
    • South Yorkshire
    • SHEFFIELD
    • Funded by an IRDiRC member
    • TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research)
    • International Centre for Life
    • Institute of Genetic Medicine
    • 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
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Midlands Muscle Network
    • Birmingham Children's Hospital NHS Foundation Trust
    • Department of Clinical Inherited Metabolic Disorders
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism
    • St James's University Hospital
    • Department of Biochemical Genetics
    • More details
    • UNITED KINGDOM
    • West Yorkshire
    • LEEDS