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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCPrion protein dysfunction in inherited metabolic myopathies
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
AUBIÈRE

Financiado por um membro do IRDiRCMolecular mechanisms of mtDNA maintenance in human health and disease
Laboratoire de Physique de Clermont
Health, Environment and Energy

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCThe bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCA

OCCITANIE
TOULOUSE

Financiado por um membro do IRDiRCInfluence of mtDNA background (haplogroups) on mitochondrial pathologies.
Faculté de médecine de Toulouse
Equipe de "Médecine évolutive"

FRANCA

PAYS DE LA LOIRE
ANGERS

Financiado por um membro do IRDiRCAddressing Complex I deficiencies through drug screening
CHU d'Angers
UF de Biologie Moléculaire

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Financiado por um membro do IRDiRCMICA: Randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in patients with Mitochondrial Myopathy (AIMM)
Newcastle University Institute for Ageing (NUIA), Newcastle Biomedicine
Wellcome Trust Centre for Mitochondrial Research (Institute of Neuroscience)

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

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

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCPersonalized 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

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCStudy 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

FINLANDIA

Finland
HELSINKI

Financiado por um membro do IRDiRCMitochondrial 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

Financiado por um membro do IRDiRCMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCUbinergy: 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

Financiado por um membro do IRDiRCIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ESPANHA

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

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCEstablishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

SUECIA

Region Stockholm
STOCKHOLM

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

SUICA

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

CANADA

Ontario
TORONTO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : 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

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

BELGICA

ANTWERPEN
ANTWERPEN

ESPANHA

Madrid
MADRID

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
BRON

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

VENETO
PADOVA

Financiado por um membro do IRDiRCThe role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Projetos de investigação multicêntricos