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Research projects
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
FINLAND
Finland
HELSINKI
Mitochondrial metabolism at cross-roads of nervous system health and disease
University of Helsinki
Stem Cells and Metabolism Research Program
FINLAND
Finland
TAMPERE
Molecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology
FRANCE
ILE-DE-FRANCE
PARIS
Mitochondrial 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
Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANCE
PAYS DE LA LOIRE
ANGERS
Identifying candidate drugs in mitochondrial cardiomyopathies: From Mouse to Human
CHU d'Angers
Plateau de Biologie et Médecine Moléculaire
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Identifying 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
GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - Multi-Omics Analyses -DE (partner1)
Institut für Humangenetik der TU München
Institut für Humangenetik
GERMANY
Bayern
MÜNCHEN
mitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik
GERMANY
Bayern
MÜNCHEN
mitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik
GERMANY
Bayern
MÜNCHEN
GENOMIT : 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
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
ITALY
LOMBARDIA
MILANO
Identification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
S.S. Genetica dei Disturbi del Movimento e Disordini del Metabolismo Energetico
ITALY
LOMBARDIA
MILANO
GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials - IT
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
S.S. Genetica dei Disturbi del Movimento e Disordini del Metabolismo Energetico
ITALY
VENETO
PADOVA
Enhancing Opa1-dependent cristae structure to combat mitochondrial diseases
Venetian Institute of Molecular Medicine
Fondazione per la ricerca Biomedica avanzata ONLUS
SWEDEN
Region Stockholm
SOLNA
Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
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 KINGDOM
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
AUSTRIA
WIEN
WIEN
Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service d'hématologie pédiatrique
SPAIN
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
Aragón
ZARAGOZA
Oxidative phosphorylation genetic disorders: pathological mechanisms and therapeutic approaches
Centro de Investigación Biomédica de Aragón (CIBA)
Instituto de Investigación Sanitaria Aragón
SPAIN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluńa
BARCELONA
PEAK Registry: Pyruvate Kinase Deficiency Global Longitudinal Registry - ES
Hospital Universitari Vall d'Hebron
Servicio de Hematología y Hemoterapia
SPAIN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluńa
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAIN
Cataluńa
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAIN
Cataluńa
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
Madrid
MADRID
New 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
SPAIN
Madrid
MADRID
New adjuvant therapeutical interventions for mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre
SPAIN
Madrid
MADRID
Rare mitochondrial diseases: strategy for functional analysis of novel genetic variants and pathophysiologic role of multitask oxphos-linked genes
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre
SPAIN
Madrid
MADRID
Identification 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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Lum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Developing an Integrated Rare Disease Bioinformatics Resource to Determine Phenotype to Genotype Correlations
Institution: Information not provided - US
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
FORWARD: A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - AT
Institution: Information not provided - AT
FRANCE
ILE-DE-FRANCE
PARIS
Improvement of procedures for the prenatal diagnosis of genetics disorders resulting from mitochondrial DNA mutations
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire
GERMANY
Baden-Württemberg
HEIDELBERG
NGS2025 : Evaluation of the Expansion of Newborn screening by additional 28 target diseases
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
SPAIN
Madrid
MADRID
Dominant optic atrophy: iPSCs as a model of disease, diagnostic improvement and therapeutic approach
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Color vision in inherited retinal degenerations
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Diet and the cpt1a arctic variant: impact on the health of alaska native children
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
In Vivo Modeling of Mitochondrial Complex I Deficiency in Retinal Ganglion Cells
Institution: Information not provided - US
CZECH REPUBLIC
Usti nad Labem
USTI NAD LABEM
Molecular mechanism of mitochondrial disease caused by impaired protein processing in mitochondria
Masaryk hospital
Laboratory of cytogenetics and molecular genetics
FINLAND
Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCE
AUVERGNE-RHONE-ALPES
LA TRONCHE
Towards gene replacement tHErapy for seveRE mitochondrial diSEase
GIN: Grenoble Institut Neurosciences
Équipe "Vieillissement cérébral et thérapies
FRANCE
ILE-DE-FRANCE
PARIS
Design of an AAV-based gene therapy for mitochondrial disease caused by mutations in the RNA stability factor LRPPRC
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
FRANCE
ILE-DE-FRANCE
PARIS
Deficient protein processing in mitochondrial diseases
Institut National de la Santé et de la Recherche Médicale
FRANCE
ILE-DE-FRANCE
PARIS
How to bypass mitochondrial ATP synthase deficiencies? The role of mitochondrial carriers MitoBAD (Mitochondrial Bypass ATPsynthase Deficiencies)
Institut National de la Santé et de la Recherche Médicale
FRANCE
PAYS DE LA LOIRE
ANGERS
Unbiased study of the stress response mechanisms induced by mitochondrial dysfunction in Leigh syndrome
CHU d'Angers
Département de neurologie
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Genotypic and phenotypic analysis of early onset epileptic encephalopathies
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251
GERMANY
Baden-Württemberg
TÜBINGEN
TreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
GERMANY
Niedersachsen
OLDENBURG
TreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik
GERMANY
Nordrhein-Westfalen
AACHEN
Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Aachen
Klinik für Neurologie
GERMANY
Schleswig-Holstein
KIEL
Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie
ITALY
CAMPANIA
NAPOLI
Finding new targets to counteract brain progenitor cells dysregulation in AGC1 deficiency hypomyelination a multi-disciplinary approach
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"
ITALY
EMILIA ROMAGNA
BOLOGNA
Finding new targets to counteract brain progenitor cells dysregulation in AGC1 deficiency hypomyelination a multi-disciplinary approach
Universitŕ di Bologna - Scienze Biologiche, Geologiche ed Ambientali
Dipartimento di Farmacia e Biotecnologie
ITALY
LAZIO
ROMA
Stabilization of tRNAs as a therapeutic strategy for diseases due to mutations in mt-tRNAs
Sapienza Universitŕ di Roma - Facoltŕ di Medicina e Chirurgia
Dipartimento di Scienze Radiologiche, Oncologiche ed Anatomo Patologiche
ITALY
LOMBARDIA
MILANO
Mitochondrial aminoacyl tRNA synthetases: implementation of the genetic diagnosis and evaluation of amino acid supplementation as potential therapeutic approach
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
S.S. Genetica dei Disturbi del Movimento e Disordini del Metabolismo Energetico
ITALY
VENETO
PADOVA
Experimental gene therapy in mitochondrial disorders
Venetian Institute of Molecular Medicine
Centro di Ricerca della Fondazione per la Ricerca Biomedica Avanzata
ITALY
VENETO
PADOVA
Optic atrophy 1 dependent signals in retinal ganglion cells: from identification to a therapy for autosomal dominant optic atrophy
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute
SPAIN
Andalucía
SEVILLA
Whole-exome sequencing for the first-line diagnosis of patients with mitochondrial disorders: investigation of pathophysiological and therapeutic aspects of coenzyme Q10 deficiency
Universidad Pablo de Olavide
SPAIN
Cataluńa
BARCELONA
Modulation of mitochondrial retrograde signaling as a treatment for Leigh syndrome
Universitat de Barcelona. Facultat de Biologia
Grupo de Biología celular de la neurodegeneración
SPAIN
Cataluńa
BELLATERRA
Modulation of mitochondrial retrograde signaling as a treatment for Leigh syndrome
Universitat Autňnoma de Barcelona. Institut de Neurocičncies
Grupo de Neuropatología Mitocondrial
SPAIN
Cataluńa
ESPLUGUES DE LLOBREGAT
Whole-exome sequencing for the first-line diagnosis of patients with mitochondrial diseases: investigation of pathophysiological and therapeutic aspects of coenzyme Q10 deficiency
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of epilepsy-related death in leigh syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of mitochondrial disease suppression in ndufs4 knockout mice
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project #4- therapeutic approaches to coq10 deficiencies
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project #2 - approaches to treating mtdna-based mitochondrial disease
Institution: Information not provided - US
CANADA
Québec
MONTRÉAL
Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias
Centre Hospitalier de l'Université de Montréal
Laboratory of neurogenetic
FRANCE
AUVERGNE-RHONE-ALPES
AUBIČRE
Disease-causing mutations in human mitochondrial DNA replication factors: A single-molecule study
Laboratoire de Physique de Clermont
Health, Environment and Energy
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Phenotype-genotype association and identifying treatment strategies for COQ8A-ataxia, a rare recessive ataxia linked to CoQ10 deficiency (TREATCOQ)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCE
ILE-DE-FRANCE
PARIS
PROSPAX: an integrated multimodal progression chart in spastic ataxias - FR
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpętričre
UMRS 1136 - Institut Pierre Louis d'Epidémiologie et de Santé Publique (IPLESP)
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Mitochondrial 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
Baden-Württemberg
TÜBINGEN
PROSPAX: an integrated multimodal progression chart in spastic ataxias - DE
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Baden-Württemberg
TÜBINGEN
TREAT-ARCA: Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias -DE
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Hamburg
HAMBURG
CureMILS: A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome -MILS-NPC high-throughput screening of repurposing drug candidates. -DE (partner 2)
ITMP -Standort Hamburg
Fraunhofer-Institut für Translationale Medizin und Pharmakologie ITMP
GERMANY
Nordrhein-Westfalen
DÜSSELDORF
CureMILS: A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome - Induced pluripotent stem cells and organoids -DE (partner1)
Universitätsklinikum Düsseldorf
Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
GERMANY
Nordrhein-Westfalen
KÖLN
TreatHSP-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
GERMANY
Nordrhein-Westfalen
KÖLN
PROSPAX: an integrated multimodal progression chart in spastic ataxias - DE
CECAD Research Center
Institute for Genetics, Faculty of Math. Nat. Sciences
GERMANY
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
ITALY
CAMPANIA
NAPOLI
Modulation of miR181a/b as a new therapeutic approach for Leber hereditary optic neuropathy (LHON)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITALY
EMILIA ROMAGNA
PARMA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Universitŕ degli Studi di Parma
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilitŕ Ambientale
ITALY
LOMBARDIA
MILANO
TREAT-ARCA: Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias - IT
IRCCS Ospedale San Raffaele
Universitŕ Vita-Salute San Raffaele
ITALY
TOSCANA
CALAMBRONE
PROSPAX: an integrated multimodal progression chart in spastic ataxias - IT
IRCCS Fondazione Stella Maris
U.O.C. Medicina Molecolare, Neurogenetica e Malattie Neuromuscolari
ITALY
VENETO
PADOVA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Universitŕ degli Studi di Padova - DiBio
Dipartimento di Biologia
ITALY
VENETO
VERONA
CureMILS: A reprogramming-based strategy for drug repositioning in patients with mitochondrial DNA-associated Leigh syndrome - IT
Universitŕ degli Studi di Verona
Dipartimento di Diagnostica e Sanitŕ Pubblica
SPAIN
Andalucía
SEVILLA
Primary CoQ deficiency zebrafish models for the study of the establishment of the disease during development and drug screening
Centro Andaluz de Biología del Desarrollo (CABD)
Grupo de Biología celular y Biotecnología
SPAIN
Cataluńa
BARCELONA
Deoxyribonucleosides as a therapy for mitochondrial DNA replication disorders: understanding therapeutic mechanisms and broadening the treatment to mutations in POLG and other related genes
Universitat de Barcelona. Facultat de Biologia
Grupo de Farmacología molecular y terapias experimentales
SPAIN
Cataluńa
BARCELONA
Deoxyribonucleosides as a therapy for mitochondrial DNA replication disorders: understanding therapeutic mechanisms and broadening the treatment to mutations in POLG and other related genes
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
SPAIN
Cataluńa
BARCELONA
Generation of humanized murine models for polymerase mitochondrial defects (POLG)
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
SPAIN
País Vasco
SAN SEBASTIÁN
The impact of cholesterol dyshomeostasis and endoplasmic-reticulum stress on mitochondrial DNA metabolism in neurological and neurodegenerative diseases
Instituto de Investigación Sanitaria Biodonostia
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Intravenous mitotargeted aav9 gene therapy for treatment of visual loss and encephalopathy in leigh syndrome and narp
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Pathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Therapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Investigation of clinical syndromes asocaited with mtdna point mutations
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Intravenous MitoTargeted AAV9 Gene Therapy for Treatment of Visual Loss and Encephalopathy in Leigh Syndrome and NARP
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mito-Targeted AAV to treat Leber Hereditary Optic Neuropathy caused by ND4 mutations
Institution: Information not provided - US
SPAIN
Cataluńa
BARCELONA
Preclinical efficacy studies to expand the use of deoxyribonucleosides as a treatment for mitochondrial DNA depletion and multiple deletions syndromes (MDDS). Extension to unexplored genetic causes
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
SWEDEN
Region Västerbotten
UMEĹ
Molecular and functional role of ISCU and NGFB in two neuro-genetic conditions: aconitase deficiency and hereditary sensory and autonomic neuropathy type 5
Umeĺ Universitet
Department of Medical Biosciences
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project #3 - pharmacological and gene therapy of tk2 deficiency in mice and human
Institution: Information not provided - US
FINLAND
Finland
HELSINKI
The rare diseases of Finnish heritage MIRAS, IOSCA, AHS and EPM1 and their disease mechanisms
Folkhälsan
Folkhälsan Research Center
FINLAND
Finland
HELSINKI
The rare diseases of Finnish heritage MIRAS, IOSCA, AHS and EPM1 and their disease mechanisms
University of Helsinki
Stem Cells and Metabolism Research Program
FINLAND
Finland
KUOPIO
The rare diseases of Finnish heritage MIRAS, IOSCA, AHS and EPM1 and their disease mechanisms
University of Eastern Finland
Institute of Clinical Medicine
GERMANY
Baden-Württemberg
TÜBINGEN
EOA (Early Onset Ataxia) study: multicenter observational study for patients with early onset ataxia (onset before age 40).
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Bayern
MÜNCHEN
EOA (Early Onset Ataxia) study: multicenter observational study for patients with early onset ataxia (onset before age 40).
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
Multicentric Research projects
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Maastricht UMC+
- Laboratorium Clinical Genomics
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Boston Children's Hospital
- Department of Pediatrics
- Department für Augenheilkunde Tübingen
- Molekulargenetisches Labor
- GENYO - Genómica e Investigación Oncológica
- Laboratorio de Regulación Génica, Células madre y Desarrollo
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Universitätsklinikum Düsseldorf
- Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie
GERMANY
Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials
NETHERLANDS
Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
UNITED STATES
Massachusetts
BOSTON
PEAK Registry: Pyruvate Kinase Deficiency Global Longitudinal Registry
GERMANY
Baden-Württemberg
TÜBINGEN
TreatOPON: Preclinical Development of Treatments for OPA1-linked Optic Neuropathies
SPAIN
Andalucía
GRANADA
COQ-iPSC : Coenzyme Q10 Deficiency Syndrome: Understanding the genotype-phenotype association and metabolic dysfunction through generation of induced pluripotent stem cells (iPSCs) from patient-specific uncorrected and genetically-corrected cells
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
TREAT-ARCA: Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal-recessive ataxias
GERMANY
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: Network for translational research on hereditary spastic paraplegia
GERMANY
Baden-Württemberg
TÜBINGEN
PROSPAX: an integrated multimodal progression chart in spastic ataxias
GERMANY
Nordrhein-Westfalen
DÜSSELDORF