x

Search for a research project

* (*) mandatory field

87 Result(s)

Sort by

Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
AUBIÈRE

Funded by an IRDiRC memberMolecular mechanisms of mtDNA maintenance in human health and disease
Laboratoire de Physique de Clermont
Health, Environment and Energy

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberThe bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberInfluence of mtDNA background (haplogroups) on mitochondrial pathologies.
Faculté de médecine de Toulouse
Equipe de "Médecine évolutive"

FRANCE

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberAddressing Complex I deficiencies through drug screening
CHU d'Angers
Plateau de Biologie et Médecine Moléculaire

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

MICA: 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)

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberPathophysiology and therapeutic strategies in mitochondrial diseases using patient-specific induced neurons generated by direct reprograming
Centro Andaluz de Biología del Desarrollo (CABD)
Grupo de Biología celular y Biotecnología

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberFunctional validation studies of genetic variants in mitochondrial and nuclear genome in patients with mitochondrial diseases
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

ESTONIA

Tartu
TARTU

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu
Department of Clinical Genetics

FINLAND

Finland
HELSINKI

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

HUNGARY

Közép-Magyarország
BUDAPEST

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University
Department of Biophysics and Radiation Biology

ITALY

TOSCANA
SESTO FIORENTINO (FIRENZE)

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze
Dipartimento di Biologia

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc
Afdeling Fysiologie

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberIDOLS-G: Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño - ES
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberNew tools for the diagnosis and treatment of mitochondrial OXPHOS disorders
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

AUSTRIA

SALZBURG
SALZBURG

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - AT
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Universitätsklinik für Kinder- und Jugendheilkunde

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberTissue-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

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberMitochondrial Disorders: from a global registry to medical genomics, toward clinical trials
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

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)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberIdentifying candidate drugs in mitochondrial cardiomyopathies: From Mouse to Human
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

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

Bayern
MÜNCHEN

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - Patient Registry -DE (partner 2)
LMU Klinikum der Universität München - Campus Großhadern
Neurologische Klinik und Poliklinik

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - IT
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberEnhancing Opa1-dependent cristae structure to combat mitochondrial diseases
Venetian Institute of Molecular Medicine
Fondazione per la ricerca Biomedica avanzata ONLUS

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberDevelopment of a platform to demonstrate the pathogenicity of variants of uncertain significance and new disease-causing genes in patients with disorders of mitochondrial energy metabolism
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias

BELGIUM

ANTWERPEN
ANTWERPEN

Funded by an IRDiRC memberA preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken
Peripheral Neuropathy Research Group

CANADA

Ontario
OTTAWA, ONTARIO

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Funded by an IRDiRC memberEarly identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant
Laboratoire EFCR/Pneumologie

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberInterplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberAmino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

FRANCE

ILE-DE-FRANCE
CRÉTEIL

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberAn integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire

FRANCE

ILE-DE-FRANCE
GARCHES

Funded by an IRDiRC memberPatient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberCollaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC membersPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

FRANCE

PAYS DE LA LOIRE
NANTES

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberModelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberA quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université
Centre de Résonance Magnétique Biologique et Médicale

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberCellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"

NORWAY

Østlandet
OSLO

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål

SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAIN

Madrid
MADRID

UNITED STATES

California
PALO ALTO

Funded by an IRDiRC membersPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics

CANADA

Colombie-Britannique
VICTORIA

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

CANADA

Ontario
TORONTO

ITALY

LAZIO
ROMA

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

SWEDEN

Region Stockholm
STOCKHOLM

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

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

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

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

Multicentric Research projects