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79 Result(s)

Funded by an IRDiRC member =

    51 Research projects; 28 Multicentric Research projects

    Research projects

    • Funded by an IRDiRC member
    • Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies (GENOMIT)
    • LKH Salzburg - Universitätsklinikum der Paracelsus Med. Privatuniversität
    • Universitätsklinik für Kinder- und Jugendheilkunde
    • More details
    • AUSTRIA
    • SALZBURG
    • SALZBURG
    • 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
    • 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
    • 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
    • Molecular Neurology
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Funded by an IRDiRC member
    • The role of polyamine metabolism and NAD+-dependent enzymes, sirtuins and poly(ADP-ribose) polymerases, in diseases characterized with mitochondrial dysfunction.
    • University of Helsinki
    • Molecular Neurology
    • 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
    • Funded by an IRDiRC member
    • Clinical and psychopathological approach of neuromuscular disease on gender identity
    • Université de Strasbourg
    • Subjectivité, lien social et modernité (EA3071)
    • More details
    • FRANCE
    • FRANCHE-COMTE
    • STRASBOURG
    • 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
    • Improvement of procedures for the prenatal diagnosis of genetics disorders resulting from mitochondrial DNA mutations
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Funded by an IRDiRC member
    • Childbirth and parenthood in women with motor disability related to rare diseases
    • Fondation hospitaličre Sainte-Marie
    • Service d'Aide ŕ la Parentalité des Personnes en Situation de Handicap
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • 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
    • More details
    • FRANCE
    • NORD-PAS-DE-CALAIS
    • LILLE
    • 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
    • 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
    • Clinical and genetic presentation of juvenile mitochondriopathies
    • Universitätsmedizin Göttingen
    • Klinik für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Investigation of mitochondrial dysfunction with genomic and biochemical analysis
    • Institute of Genomic Medicine and Rare Disorders Semmelwei University
    • 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
    • Universitŕ degli Studi di Ferrara
    • Dipartimento di Medicina Sperimentale e Diagnostica
    • More details
    • ITALY
    • EMILIA ROMAGNA
    • FERRARA
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesů - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • Isolated domains of aminoacyl tRNA syntethases as a novel therapeutic tool for mt tRNA mutation associated disease
    • Sapienza Universitŕ di Roma - Facoltŕ di Medicina e Chirurgia
    • Dipartimento di Scienze Radiologiche, Oncologiche ed Anatomo Patologiche
    • 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
    • Funded by an IRDiRC member
    • 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 - Unitŕ 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
    • Unitŕ 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
    • Therapeutic strategies to combat mitochondrial disorders
    • Universitŕ degli Studi di Padova- Polo A.Vallisneri
    • Dipartimento di Scienze Biomediche Sperimentali
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • Inner ear connexins: role in hearing acquisition and DFNB1 pathophysiology
    • Venetian Institute of Molecular Medicine
    • Centro Interdipartimentale per lo Studio dei Segnali Cellulari
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • Therapeutic strategies to combat mitochondrial disorders
    • Venetian Institute of Molecular Medicine
    • Dulbecco Telethon Institute
    • 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
    • Towards treatment of MELAS syndrome: drug development based on newly identified compounds
    • Radboudumc - Radboud universitair medisch centrum
    • Radboud Centrum voor Mitochondriële Geneeskunde
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • Funded by an IRDiRC member
    • Molecuar mechanisms and modulation of mitophagy and mitocondrial biogenesis in cellular models of MELAS disease
    • Centro Andaluz de Biología del Desarrollo (CABD)
    • Biología celular y Biotecnología
    • More details
    • SPAIN
    • Andalucía
    • SEVILLA
    • 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
    • Funded by an IRDiRC member
    • Mitochondrial encephalomyopathies and secondary coenzyme Q10 deficiencies: Study in pediatric patients, in cellular and murine models
    • Hospital Universitari Sant Joan de Déu
    • Grupo de investigación de enfermedades neurológicas minoritarias de base genčtica en el ámbito pediátrico
    • More details
    • SPAIN
    • Cataluńa
    • ESPLUGUES DE LLOBREGAT
    • Using induced pluripotent stem cells (iPS) for the study and treatment of mitochondrial diseases
    • Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
    • Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Funded by an IRDiRC member
    • GRiP: Global Research in Paediatrics - ES
    • Hospital Universitario Cruces - Osakidetza
    • Unidad Neonatal
    • More details
    • SPAIN
    • País Vasco
    • BARAKALDO
    • Inborn errors of endocrinology and metabolism
    • Karolinska Institutet - Solna
    • Department of Molecular Medicine and Surgery
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • 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
    • The Deciphering Developmental Disorders (the DDD study)
    • Wellcome Trust Sanger Institute
    • DECIPHER
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • HINXTON
    • Exploring the Genetics of Renal Developmental Disease
    • Royal Devon and Exeter Hospital - Wonford site
    • Department of Urology
    • More details
    • UNITED KINGDOM
    • Devon
    • EXETER
    • 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
    • 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
    • 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
    • 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
    • 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
    • InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
    • HSK, Dr. Horst Schmidt Kliniken GmbH
    • Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
    • More details
    • GERMANY
    • Hessen
    • WIESBADEN
    • International Clearinghouse for Birth Defects Monitoring Systems
    • Universitätsklinikum Magdeburg A.ö.R
    • MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
    • More details
    • GERMANY
    • Sachsen-Anhalt
    • MAGDEBURG
    • UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients
    • IRCCS Ospedale Pediatrico Bambino Gesů - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • GRIP: Global Research in Paediatrics
    • Azienda Ospedaliera di Padova
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • EUMITOCOMBAT: rational treatment strategies combating mitochondrial oxidative phosphorylation (OXPHOS) disorders (TERMINATED)
    • Radboudumc - Radboud universitair medisch centrum
    • Radboud Centrum voor Mitochondriële Geneeskunde
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • 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
    • Cataluńa
    • 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
    • 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