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Research projects

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

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

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

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberIdentifying 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

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

LAZIO
ROMA

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

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
S.S. Genetica dei Disturbi del Movimento e Disordini del Metabolismo Energetico

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
S.S. Genetica dei Disturbi del Movimento e Disordini del Metabolismo Energetico

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

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

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

AUSTRIA

WIEN
WIEN

Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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

Aragón
ZARAGOZA

Funded by an IRDiRC memberOxidative phosphorylation genetic disorders: pathological mechanisms and therapeutic approaches
Centro de Investigación Biomédica de Aragón (CIBA)
Instituto de Investigación Sanitaria Aragón

SPAIN

Cataluña
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

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

PEAK Registry: Pyruvate Kinase Deficiency Global Longitudinal Registry - ES
Hospital Universitari Vall d'Hebron
Servicio de Hematología y Hemoterapia

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
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

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
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

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

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberNew 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

Funded by an IRDiRC memberRare 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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberLum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

ILE-DE-FRANCE
PARIS

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

Funded by an IRDiRC memberDominant 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

Funded by an IRDiRC memberColor vision in inherited retinal degenerations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CZECH REPUBLIC

Usti nad Labem
USTI NAD LABEM

Funded by an IRDiRC memberMolecular mechanism of mitochondrial disease caused by impaired protein processing in mitochondria
Masaryk hospital
Laboratory of cytogenetics and molecular genetics

FINLAND

Finland
HELSINKI

FRANCE

AUVERGNE-RHONE-ALPES
LA TRONCHE

Funded by an IRDiRC memberTowards gene replacement tHErapy for seveRE mitochondrial diSEase
GIN: Grenoble Institut Neurosciences
Équipe "Vieillissement cérébral et thérapies

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDesign 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

Funded by an IRDiRC memberDeficient protein processing in mitochondrial diseases
Institut National de la Santé et de la Recherche Médicale

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

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

GERMANY

Nordrhein-Westfalen
AACHEN

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

Funded by an IRDiRC memberFinding 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

Funded by an IRDiRC memberFinding new targets to counteract brain progenitor cells dysregulation in AGC1 deficiency hypomyelination a multi-disciplinary approach
Università di Bologna - Scienze Biologiche, Geologiche ed Ambientali
Dipartimento di Farmacia e Biotecnologie

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

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

Funded by an IRDiRC memberExperimental gene therapy in mitochondrial disorders
Venetian Institute of Molecular Medicine
Centro di Ricerca della Fondazione per la Ricerca Biomedica Avanzata

SPAIN

Cataluña
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

Cataluña
BELLATERRA

Modulation of mitochondrial retrograde signaling as a treatment for Leigh syndrome
Universitat Autònoma de Barcelona. Institut de Neurociències
Grupo de Neuropatología Mitocondrial

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 memberProject #4- therapeutic approaches to coq10 deficiencies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Québec
MONTRÉAL

FRANCE

AUVERGNE-RHONE-ALPES
AUBIÈRE

Funded by an IRDiRC memberDisease-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

Funded by an IRDiRC memberPhenotype-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

Funded by an IRDiRC memberPROSPAX: an integrated multimodal progression chart in spastic ataxias - FR
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
UMRS 1136 - Institut Pierre Louis d'Epidémiologie et de Santé Publique (IPLESP)

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

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberPROSPAX: 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

Funded by an IRDiRC memberTREAT-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

Nordrhein-Westfalen
DÜSSELDORF

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

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberPROSPAX: an integrated multimodal progression chart in spastic ataxias - DE
CECAD Research Center
Institute for Genetics, Faculty of Math. Nat. Sciences

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberModulation 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

Funded by an IRDiRC memberPre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Università degli Studi di Parma
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale

ITALY

TOSCANA
CALAMBRONE

Funded by an IRDiRC memberPROSPAX: 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

ITALY

VENETO
VERONA

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

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
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

UNITED STATES

Washington
ADDRESS: 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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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