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Financiado por un miembro del IRDiRC = 
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Proyectos de investigación
ALEMANIA
Sachsen
LEIPZIG
Investigations of molecular mechanisms of mitochondrial biogenesis in vertebrates to gain insight into the relevant pathogenic events in patients presenting with mitochondrial disorders
Biotechnologisch-Biomedizinisches Zentrum der Universität Leipzig
Molekulare Zelltherapie
ESPAÑA
Cataluña
BARCELONA
Estudios de seguridad del tratamiento de síndromes de depleción y deleciones del DNA mitocondrial mediante la administración de nucleósidos
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Andalucía
SEVILLA
Patofisiología y estrategias terapéuticas en las enfermedades mitocondriales utilizando neuronas inducidas específicas de los pacientes generadas por reprogramación directa
Centro Andaluz de Biología del Desarrollo (CABD)
Grupo de Biología celular y Biotecnología
ESPAÑA
Cataluña
BARCELONA
Validación funcional de variantes en el genoma mitocondrial y nuclear en pacientes con patología mitocondrial
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
ESPAÑA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : 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
FROGH : 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
JAPON
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
ESPAÑA
Madrid
MADRID
Correlación clínico-genómica, y estudio celular de patomecanismos y cribado farmacológico en pacientes con enfermedades mitocondriales OXPHOS
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
ALEMANIA
Bayern
MÜNCHEN
mitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik
ALEMANIA
Bayern
MÜNCHEN
mitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik
ALEMANIA
Niedersachsen
GÖTTINGEN
Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
FINLANDIA
Finland
HELSINKI
The role of polyamine metabolism and NAD+-dependent enzymes, sirtuins and poly(ADP-ribose) polymerases, in diseases characterized with mitochondrial dysfunction
University of Helsinki
Stem Cells and Metabolism Research Program
FINLANDIA
Finland
HELSINKI
Mitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program
FINLANDIA
Finland
HELSINKI
Tissue-specific mitochondrial signaling and adaptations to mistranslation
University of Helsinki
Stem Cells and Metabolism Research Program
FINLANDIA
Finland
TAMPERE
Molecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases.
Institution: Information not provided - FR
FRANCIA
NOUVELLE AQUITAINE
BORDEAUX
Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
HUNGRIA
Közép-Magyarország
BUDAPEST
Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALIA
LOMBARDIA
MILANO
Identification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
JAPON
JAPAN
CHIBA
The creation of evidence which lead to medical practice with a view to revision of manuals/guideline of mitochondrial disease
Chiba Cancer Center Research Institute
ESPAÑA
Cataluña
BARCELONA
Identificación de nuevos genes causantes de enfermedad en pacientes con trastornos del metabolismo energético mitocondrial y desarrollo de una plataforma
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias
CANADA
Ontario
OTTAWA
Emerging 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
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
ITALIA
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SUECIA
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUIZA
Suisse Alémanique
ZÜRICH
Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
Proyectos de investigación multicéntricos
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Radboudumc - Radboud universitair medisch centrum
- Radboud Centrum voor Mitochondriële Geneeskunde
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Instituto de Investigación Hospital 12 de Octubre
- Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
- CHU d'Angers
- UF de Biologie Moléculaire
- AZM - Academisch Ziekenhuis Maastricht
- Laboratorium Clinical Genomics
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
REINO UNIDO (EL)
West Midlands
BIRMINGHAM
Midlands Muscle Network
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
EUMITOCOMBAT: rational treatment strategies combating mitochondrial oxidative phosphorylation (OXPHOS) disorders (TERMINATED)
ALEMANIA
Bayern
MÜNCHEN
GENOMIT: Mitochondrial disorders - Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models
ALEMANIA
Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies
ALEMANIA
Bayern
MÜNCHEN
GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options
ESPAÑA
Madrid
MADRID
Red del Estudio Clínico-epidemiológico y Molecular de las Enfermedades de la Cadena Respiratoria Mitocondrial en España (FINALIZADO)
FRANCIA
PAYS DE LA LOIRE
ANGERS
French network on mitochondrial diseases
PAISES BAJOS (LOS)
Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCIA
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
REINO UNIDO (EL)
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
REINO UNIDO (EL)
South Yorkshire
SHEFFIELD