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Terminated research projects = 
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Study involving ERN members in at least two Member States = 
Research projects
ITALY
EMILIA ROMAGNA
PARMA
Pre-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
VENETO
PADOVA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Università degli Studi di Padova - DiBio
Dipartimento di Biologia
SPAIN
Cataluña
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
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
FRANCE
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
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
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
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
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
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
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
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
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
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
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
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
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
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
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
New tools for the diagnosis and treatment of mitochondrial OXPHOS disorders
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
SPAIN
Madrid
MADRID
New adjuvant therapeutical interventions for mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
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
Laboratoire de Biochimie et Biologie 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
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
SPAIN
Cataluña
BARCELONA
Multiomics and functional integration in the diagnosis of mitochondrial energy metabolism diseases
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en Enfermedades metabólicas hereditarias y enfermedades musculares
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - BE
Institution: Information not provided - BE
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - FR
Institution: Information not provided - FR
GERMANY
Nordrhein-Westfalen
BONN
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - DE
Universitäts-Augenklinik Bonn
ITALY
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -IT
Institution: Information not provided - IT
LITHUANIA
SAMOGITIA
ADDRESS: NOT PROVIDED - LT
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -LT
Institution: Information not provided - LT
POLAND
Kraków
ADDRESS: NOT PROVIDED - PL
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -PL
Institution: Information not provided - PL
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
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
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
Multicentric Research projects
- MetabERN coordinating Center
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Maastricht UMC+
- Laboratorium Clinical Genomics
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
- Institution: Information not provided - FR
- Oxford University Begbroke Science Park
- Zyoxel Limited
ITALY
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
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)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
EuroVisionNet: Slechtziendheid en Degeneratie: Een draaiboek voor onderzoek naar gezichtsvermogen in Europe (AFGEROND)
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
SeeMyLife -Comprehensive survey of the living conditions of children with visual impairment due to rare eye diseases
UNITED KINGDOM
Oxfordshire
BEGBROKE