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Research projects

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

FINLAND

Finland
HELSINKI

Tissue-specific mitochondrial signaling and adaptations to mistranslation
University of Helsinki
Stem Cells and Metabolism Research Program

FINLAND

Finland
TAMPERE

Funded by an IRDiRC memberMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: german Network for mitochondrial diseases - coordination
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

HUNGARY

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberPersonalized mitochondrial disease medicine: from genetic diagnosis to drug discovery through the use of suppressor genes as pharmacological targets
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberStudy of the therapeutic potential of physical exercise in mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

AUSTRIA

WIEN
WIEN

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

JAPAN

JAPAN
TOKYO

SPAIN

Cataluña
BARCELONA

Genotyping and proteomic, metabolomic and functional phenotyping in Kearns-Sayre syndrome for the identification of new biomarkers and options
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

SPAIN

Cataluña
BARCELONA

Identification of new disease-causing genes in patients with mitochondrial energy metabolism disorders and development of a platform
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Funded by an IRDiRC memberMolecular diagnosis of mitochondrial oxidative phosphorylation defects: pathogenesis of CoQ10 deficiencies
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberDevelopment of a non-invasive diagnostic platform for OXPHOS diseases based on the detection of new protein biomarkers involved in mitochondrial dysfunction
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberClinical-genomic correlation, and cellular study of pathomechanisms and pharmacological screening in patients with OXPHOS mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED KINGDOM

Cambridgeshire
ST NEOTS

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of epilepsy-related death in leigh syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject #4- therapeutic approaches to coq10 deficiencies
Institution: Information not provided - US

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

ILE-DE-FRANCE
PARIS

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SWEDEN

Region Stockholm
STOCKHOLM

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

SWITZERLAND

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Ontario
TORONTO

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : 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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Genotypic and phenotypic analysis of early onset epileptic encephalopathies
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

GERMANY

Schleswig-Holstein
KIEL

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberStabilization of tRNAs as a therapeutic strategy for diseases due to mutations in mt-tRNAs
Sapienza Università di Roma - Facoltà di Medicina e Chirurgia
Dipartimento di Scienze Radiologiche, Oncologiche ed Anatomo Patologiche

ITALY

LOMBARDIA
MILANO

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberMitochondrial myopathies with mtDNA instability: the role of cristae maintenance
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberTreatHSP-Net: Pathogenic mechanisms and therapeutic approaches for HSP diseases caused by mutations in SPG7
CECAD Research Center
Institute for Genetics, Faculty of Math. Nat. Sciences

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANY

Niedersachsen
OLDENBURG

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects