Overview and details of the sessions of this conference. Please select a date or location to show only sessions at that day or location. Please select a single session for detailed view (with abstracts and downloads if available).
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Session Overview |
Date: Wednesday, 14/June/2023 | |
8:00am - 6:00pm | Slides Center Location: Slides Center |
8:00am - 6:00pm | Registration Desk Location: Bologna Congress Center |
9:00am - 10:30am | Session 4.1: Therapy 1: preclinical developments Location: Bologna Congress Center - Sala Europa Session Chair: Michal Minczuk Session Chair: Maria Falkenberg Invited Speaker: N. Larsson; C. Viscomi |
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Invited
The Organization of the Respiratory Chain and its role in Metabolism Karolinska Institutet, Sweden Invited
Developing new therapies for mitochondrial diseases University of Padova, Italy Oral presentation
AAV-mediated transduction of the nuclear-coded mitochondrial ANT1 gene can ameliorate mouse Ant1-/- pathology: a step toward the treatment of mitochondrial cardiomyopathy 1The Children's Hospital of Philadelphia, PA USA; 2Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA Oral presentation
Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects 1Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; 2Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; 4Institut Cochin, INSERM Unité 1016–Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 8104–Service de Biochimie Métabolique et Centre de Génétique Moléculaire et Chromosomique, Groupement Hospitalier Universitaire (GHU) Pitié-Salpétrière, Assistance Publique–Hôpitaux de Paris (AP–HP)–Université Paris Descartes, Paris, France; 5Mitochondrial and Neuromuscular Disorders Group, '12 de Octubre’ Hospital Research Institute (imas12), Madrid, Spain; 6Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain; 7Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain; 8Neurology Department, Donostia University Hospital, Osakidetza, San Sebastián. Neuromuscular Group, Neurosciences Area, Biodonostia Research Institute, San Sebastián, Spain; Neurosciences Department, Basque Country University, San Sebastián, Spain; 9Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED (CIBER), Instituto Carlos III, Madrid, Spain; 10Children Neuromuscular Diseases Unit, Pediatrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 11Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 12Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain; 13Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; 14Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK; 15Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain; 16Neuropediatra, Neurolinkia & Hospital Viamed Santa Ángela De la Cruz, Sevilla, Spain; 17Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain Flash Talk
The mitoDdCBE system as a mitochondrial gene therapy approach 1University of Miami, United States of America; 2Max Planck Institute of Biochemistry, Germany; 3Broad Institute, Harvard University, and HHMI, United States of America Flash Talk
Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models 1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Flash Talk
Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations. 1Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy |
10:30am - 10:45am | Coffee Break Location: Bologna Congress Center |
10:45am - 12:15pm | Session 4.2: Therapy 2: clinical trials Location: Bologna Congress Center - Sala Europa Session Chair: Caterina Garone Session Chair: Chiara La Morgia |
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Invited
Clinical trials for Leber hereditary optic neuropathy Emory University School of Medicine, United States of America Invited
Development of deoxynucleoside therapy for mitochondrial DNA depletion/deletions syndrome 1Columbia University Irving Medical Center, New York, USA, United States of America; 2University of Bologna, Bologna, Italy; 3Univerity of Malaga, Malaga, Spain; 4University Hospital, 12 de Octubre, Madrid, Spain; 5Vall d’Hebron Institut de Recerca, Barcelona, Spain Oral presentation
Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 3IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 5Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; 6Charles River Laboratories, Evreux, France; 7Gensight Biologics, Paris, France Oral presentation
Combatting myopathy in m.3243A>G mutation carriers: first in human transplantation of autologous mesoangioblasts 1Department of Toxicogenomics, Maastricht University Medical Centre+, Maastricht, The Netherlands; 2School for Mental Health and Neurosciences (MHeNS), Maastricht University Medical Centre+, Maastricht, The Netherlands; 3Department of Neurology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 4Department of Radiology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 5School for Developmental Biology and Oncology (GROW), Maastricht University Medical Centre+, Maastricht, The Netherlands; 6Center for Cell and Gene Therapy (CCG), Leiden University Medical Center, Leiden, The Netherlands; 7Department of Rehabilitation Medicine, Maastricht University Medical Centre+, Maastricht, The Netherlands; 8SMRC – Sports Medicine Research Center, BIOMED - Biomedical Research Institute, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium; 9Neuromuscular and Mitochondrial research center (NeMo), Rotterdam/Maastricht, The Netherlands Flash Talk
PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients. 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy Flash Talk
Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy 1Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9Helsinki University Hospital Diagnostic Centre, Helsinki, Finland Flash Talk
Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16Service d'Ophtalmologie, CHU de Caen, Caen, France; 17Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18Retina Consultants, P.C, Hartford, Connecticut, USA; 19Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21GenSight Biologics, Paris, France; 22Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy |
12:15pm - 1:05pm | Industry Workshop: Pretzel Therapeutics Location: Bologna Congress Center - Sala Europa |
12:15pm - 1:15pm | Lunch Location: Bologna Congress Center - Sala Europa |
1:15pm - 2:45pm | Session 4.3: Therapy 3: reproductive options and mtDNA editing Location: Bologna Congress Center - Sala Europa Session Chair: Carlo Viscomi Session Chair: Daniela Zuccarello Invited Speaker: M. Herbert; M. Minczuk |
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Invited
Mitochondrial replacement in action 1Newcastle University, United Kingdom; 2Newcastle Fertility Centre Invited
The therapeutic potential of mitochondrial genome engineering MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK Oral presentation
MitoKO: A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK Oral presentation
Risk of mtDNA reversal among children born after mitochondrial replacement therapy 1Oregon Health & Science University, United States of America; 2Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America Flash Talk
Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS 1Precision BioSciences - Durham, NC, United States of America; 2University of Miami - Miami, FL, United States of America Flash Talk
MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases. 1Novosibirsk State University, Novosibirsk, Russia; 2Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3Skolkovo Institute of Science and Technology, Moscow, Russia Flash Talk
Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome 1Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America |
2:45pm - 4:15pm | Tea Break and poster session Location: Bologna Congress Center Session topics: - Late Breaking News - mtDNA maintenance and expression - Therapy 1: preclinical developments - Therapy 2: clinical trials |
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Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; 3Department of Biomedical Sciences, University of Padova, Italy; 4Department of Neurosciences, University of Padova, Italy; 5Laboratorio di Tecnologie della Riproduzione, Avantea, Cremona, Italy; 6Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy AAV-based liver-targeted gene therapy for MNGIE: proposal for a clinical trial 1MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; 2Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK; 3Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Catalonia Experimental model for studying clinical variability of Thymidine Kinase 2 deficiency with induced pluripotent stem cells 1Alma Mater Studiorum University of Bologna, Department of Medical and Surgical Sciences, Bologna, Italy; 2Alma Mater Studiorum University of Bologna, University of Bologna, Department of Pharmacy and Biotechnology, Bologna, Italy; 3IRCCS Istituto delle Scienze Neurologiche, Programma di Neurogenetica, Bologna, Italy; 4IRCCS Istituto delle Scienze Neurologiche, UOC Neuropsichiatia dell'età pediatrica, Bologna, Italy Mitochondrial genome variability in COVID-19 patients 1Azienda USL di Bologna - IRCCS Istituto delle scienze Neurologiche di Bologna, Italy, Italy; 2Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, BO, Italy; 3Infectious Diseases Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4Unit of Infectious Diseases and Clinical Microbiology, University Hospital Virgen Macarena, Institute of Biomedicine of Seville (IBIS)/CSIC, Seville, Spain; 5Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 6Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy Decoding the role of optic atrophy1 (OPA1) non-synonymous single nucleotide polymorphisms in mitochondrial DNA maintenance defects Jawaharlal Nehru Centre for Advanced Scientific Research, India Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy 1Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, The Netherlands; 2Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands; 3Department of Physiology, Radboudumc, Nijmegen, The Netherlands; 4Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands; 5University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria; 6Human and Animal Physiology, Wageningen University, The Netherlands; 7Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands Degrading factors of mitoribosome quality control and their mitigation of translation-induced stress 1Wellcome Centre for Mitochondrial Research, United Kingdom; 2University of Helsinki Mitochondrial DNA Double-Strand Breaks lead to the formation of mtDNA deletions which are increased by MgmeI knockout in vivo. University of Miami, United States of America Mutating the binding interphases of SLIRP and LRPPRC uncover specific roles for these proteins in optimizing mitochondrial translation. 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2National Bioinformatics Infrastructure Sweden (NBIS), Science for Life Laboratory, Lund University, Lund 223 87, Sweden A disease-causing mutation (p.F907I) reveals a novel pathogenic mechanism for POLG-related diseases. 1University of Gothenburg, Sweden; 2Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 3Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation 1University of Miami, United States of America; 2Stockholm University, Sweden Nucleoside supplementation in a zebrafish model of RRM2B mitochondrial DNA depletion syndrome alleviates disease associated symptoms. Department of Clinical Neurosciences, University of Cambridge, United Kingdom Non-stop mRNAs generate a ground state of mitochondrial gene expression noise Institute of Biotechnolgy, University of Helsinki, Finland Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease 1Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden; 2Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 3Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 4Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 5The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; 7Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.; 8Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; 9NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne; 10Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK.; 11Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London; 12Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil.; 14Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil.; 15Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, USA; 16Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; 17The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; 18The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; 20Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel.; 21Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; 22Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden. How hot can mitochondria be? Incubation at temperatures above 43 ºC induces the degradation of respiratory complexes and supercomplexes in intact cells and isolated mitochondria 1Department of Biochemistry and Molecualr and Cellular Biology, Universidad de Zaragoza, Spain; 2Institute for Biocomputation and Physics of Complex Systems (BIFI), Zaragoza, Spain; 3Peaches Biotech Group, Madrid, Spain; 4Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain; 5Centro de Investigaciones Biomédicas en Red en Fragilidad y Envejecimiento Saludable, Madrid, Spain Inhibition of mitochondrial protein Synthesis induces Biosynthesis of oxidative phosphorylation Complex V University College London, United Kingdom Linear DNA driven recombination in human mitochondria. 1University of Eastern Finland, Finland; 2King Abdullah University of Science and Technology (KAUST); 3University of Miami Miller School of Medicine; 4University of North Carolina at Chapel Hill Mitochondrial Topoisomerase 1 in ribonucleotide removal and mtDNA stability Umeå University, Sweden The (in)fidelity of human mitochondrial gene expression University of Helsinki, Finland The role of mitochondrial RNA polymerase in mtDNA replication priming University of Eastern Finland, Finland Mitochondrial content is significantly reduced during the early stages of human pluripotent stem cell differentiation University of Helsinki, Finland Loss of RNase H1 in early B cell development induces mitochondrial-based dysfunction 1DIR Eunice Kennedy Shriver National Institute of Child Health and Human Devlopment; 2Department of Molecular and Cellular Biology, University of Califofnia, Davis New insights into late-maturation steps of the human mitochondrial small ribosomal subunit 1Department of Cellular Biochemistry, University Medical Center Goettingen, Goettingen, Germany; 2Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC), University of Goettingen, Goettingen, Germany Early-stages during large mitoribosomal subunit assembly 1University Medical Center Göttingen, Germany; 2Cluster of Excellence (MBExC), University of Göttingen, Germany Effect of post-transcriptional modifications of tRNAMet on mitochondrial codon recognition Max Planck Institute of Multidisciplinary Sciences, Göttingen, Germany Establishing the OPA1 role in the mtDNA maintenance in cell models of Dominant Optic Atrophy (DOA) 1IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy - Programma di Neurogenetica; 2DIBINEM, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy; 3Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras-CIBERER, Autonomous University of Barcelona, Barcelona, Spain Mutations affecting the relation between mtDNA synthesis and proofreading by POLγ Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation 1Genetics Section, Molecular and Clinical Sciences, St George’s, University of London, London, United Kingdom; 2Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3Research Programs Unit, Molecular Neurology, Biomedicum, University of Helsinki, • Helsinki, Finland; 4Department of Immunology, Institute of Clinical Medicine, University of Oslo and Oslo, University Hospital, Oslo, Norway; 5Core Facilities, St George’s, University of London, London, United Kingdom.; 6Wellcome Centre for Mitochondrial Research, Translational and Clinical Research • Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8Department of Genetics, Hadassah Medical Center & Faculty of Medicine, Hebrew University of Jerusalem. 9112001 Jerusalem Israel.; 9Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; 10Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; 11Institute of Biotechnology, University of Helsinki, Helsinki, Finland The role of mL45 N-terminus in mitochondrial translation under standard and stress conditions Department of Neurology, University of Miami, Miller School of Medicine, FL, USA Characterization of human mitochondrial translation elongation and ribosome recycling factors mtEFG1 and mtEFG2 Max-Planck Institute for Multidisciplinary Sciences, Germany Knock-out of OGG1 in HEK293 cells does not alter the formation of single strand breaks in mitochondrial DNA upon H2O2 treatment 1Institute of Experimental Epileptology and Cognition Research, University of Bonn, Germany; 2Department of Epileptology, University Hospital Bonn, Germany Ligase 3 is indispensable for repair of oxidative lesions of mtDNA but dispensable for circular genome end ligation University Bonn, Department of Epileptology, Germany Modulation of mtDNA heteroplasmy through endosomal-mitophagy 1Institute of Physiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; 2Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 3Institute of Genetics, University of Cologne, Germany The role of mitoSAM in mitochondrial gene expression 1Division of Molecular Metabolism, Karolinska Institutet, Stockholm, Sweden; 2Max Planck Institute of Biochemistry, Munich, Germany; 3Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Sweden; 4Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 5Proteomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany The slumbering mitochondrion awakes: monitoring mitochondrial gene expression during oocyte and early embryo development 1Newcastle Fertility Centre, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, United Kingdom; 2Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle upon Tyne, NE2 4HH, United Kingdom How mitochondrial DNA metabolism shapes cellular senescence Department of Medical Biochemistry and Biophysics, Umeå University, Umeå 90736, Sweden Processing of stalled replication forks in mitochondria University of Eastern Finland, Finland Stochastic survival of the densest accounts for the expansion of mitochondrial mutations in the ageing of skeletal muscle fibres 1Department of Mathematics, Imperial College London, United Kingdom; 2EPSRC Centre for the Mathematics of Precision Healthcare, Imperial College London, United Kingdom Top3α is the replicative topoisomerase in mitochondrial DNA replication 1University of Eastern Finland, Finland; 2Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Radboudumc, Nijmegen, The Netherlands Mitochondrial-nuclear compatibility in hare cybrids 1University of Eastern Finland, Finland; 2Tampere University, Finland Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 1Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2Department of Biology, University of Padova, Padova, Italy Mitochondrial genome replacement can rejuvenate aging cells Kyoto prefectural University of Medicine, Japan Project pearl: raising the profile of mitochondrial disease Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom Innovative technology for regulating mitochondrial function in host cells 1Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2FOREST Program, Japan Science and Technology Agency Japan, Saitama, Japan; 3Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan CNS gene therapy in a mouse model of complex I encephalopathy University of Miami, United States of America Strategies for fighting mitochondrial diseases: AAV-based gene therapy 1Venetian Institute of Molecular Medicine, Padova; 2Department of Neuroscience, University of Padova; 3Department of Biomedical Sciences, University of Padova Cannabidiol ameliorates mitochondrial disease via PPARgamma activation 1Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain; 2Minoryx Therapeutics SL, Barcelona, Spain; 3Celltec-UB, Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat de Barcelona, Barcelona, Spain; 4CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies 1Khondrion, Nijmegen, The Netherlands; 2Department of Pediatrics, RCMM, RadboudUMC, Nijmegen, The Netherlands; 3Radboud University, Radboud Institute for Biological and Environmental Sciences, Cluster Ecology & Physiology, Department of Animal Physiology, Nijmegen, The Netherlands; 4Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; 5Department of Pediatric Neurology, Centre of neuromuscular disorders in children and adolescents, University Clinic Essen, University of Duisburg-Essen, Germany Therapeutic interventions to regulate the Q-junction, 1C metabolism and the neuroinflammatory response. 1Physiology Department, Biomedical Research Center, University of Granada, Spain; 2Ibs. Granada, Granada, Spain Yeast as a model for searching drugs against pathologies caused by mutations in ACO2 1Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; 3Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna MiR-181a/b modulation as a potential therapeutic approach for Stargardt disease treatment 1Telethon Institute of Genetics and Medicine,Italy; 2Institute for Genetic and Biomedical Research, CNR, Italy; 3Department of Translational Medical Science Federico II University of Naples, Italy; 4University of Campania Luigi Vanvitelli, Italy; 5Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Italy MitoTALEN reduces mutant mtDNA load in the mouse CNS 1Department of Neurology, University of Miami Miller School of Medicine, Miami USA; 2Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle UK Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS) 1Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; 2Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine Universi-ty, Düsseldorf, Germany; 3Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, ScreeningPort, Hamburg, Germany; 4University of Verona, Italy; 5Fondazione IRCCS Instituto Neurologico "C. Besta", Milano, Italy; 6Ludwig Maximilians University (LMU), München, Germany; 7University of Bologna, Italy; 8Freie Universität Berlin, Germany The effect of mitochondrial NMNAT3 overexpression on Alzheimer’s related proteinopathies University of Miami, United States of America In vitro models to test modulators of cellular NAD+ levels 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2UCL School of Pharmacy, UCL, London, UK; 3NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK Novel small molecule improves mitochondrial function and mitophagy in a complex III deficiency model. 1Department of Medicine, Division of Endocrinology, David Geffen School of Medicine, Los Angeles, USA.; 2Capacity Bio, Los Angeles, USA; 3Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, USA; 4Institut de Biologia Molecular De Barcelona (IBMB-CSIC), Spain.; 5Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, USA Preservation of bioenergetics and inhibition of ferroptosis with the novel compound SBT-588 in Friedreich’s Ataxia cell models Stealth BioTherapeutics, Needham, MA, United States of America The use of a coenzyme Q10 encapsulated mitochondrial targeting lipid nanoparticle formulation has therapeutic effects on a drug-induced liver injury. 1Faculty of Pharmaceutical Sciences, Hokkaido University, Japan; 2Faculty of Engineering, Hokkaido University, Japan; 3Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan In vitro 3D model of mitochondrial myopathy human skeletal muscle 1Wellcome Centre for Mitochondrial Research, Medical School, Newcastle University, United Kingdom; 2Translational and Clinical Research Institute, Newcastle University, United Kingdom; 3Institute for Bioengineering of Catalonia, The Barcelona Institute of Science and Technology, Barcelona, Spain; 4NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary Metabolic consequences for NAD+ and N- Acetyl cysteine treatment on Mitochondrial myopathy 1STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2Diabetes and Obesity Research Unit, Research Programs Unit, University of Helsinki, FIN-00290 Helsinki, Finland; 3Laboratory of Integrative Systems Physiology, École polytechnique fédérale de Lausanne, Lausanne, Switzerland; 4Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 5Helsinki University Hospital Diagnostic Centre, Helsinki 00260, Finland Silencing the aberrant Coq9 mRNA in the Coq9R239X model normalizes complex Q and restores the mitochondrial phenotype. 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Ibs.Granada, Spain; 3Biofisika Institute (CSIC,UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain A high-content in vitro screening to identify new mitophagy-activating compounds 1Department of Biomedical Sciences, University of Padova, Italy; 2Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, USA; 3Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, USA B-RA targets mitochondria in white adipose tissue and reverses diet-induced obesity 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Ibs. Granada, Granada, Spain HIF1α is a potentially druggable target for MNGIE disease Alma Mater Studiorum University of Bologna, Italy Mitochondrial modulation with Leriglitazone as a potential treatment for Rett syndrome Institut de Recerca Sant Joan de Déu, Spain New nutritional therapies for mitochondrial diseases 1Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; 2Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain; 3Servicio de Genética, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 4Unidad Pediátrica de Enfermedades Raras, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 5Servicio de Medicina Interna, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 6Servicio de Neurología, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 7Centro Nacional de Referencia para Errores Congénitos del Metabolismo (CSUR) y Centro Europeo de Referencia para Enfermedades Metabólica Hereditarias (MetabERN), Madrid, Spain Pyrroloquinoline quinone exerts neuroprotective effects on retinal ganglion cell degeneration 1Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden; 2Department of Biology, University of Pisa, Pisa, Italy Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro 1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2Department of Anesthesiology, Tokyo Medical University, Tokyo 160-0023, Japan; 3Abliva AB, Lund, Sweden A novel therapeutic strategy for mitochondrial Leigh Syndrome 1Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Osaka, Japan.; 2Luca Science Inc., Tokyo, Japan.; 3Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.; 4Department of Hematology, Osaka International Cancer Institute, Osaka, Japan. Generation of a new neuronal model of Friedreich’s Ataxia and establishment of a drug screening strategy 1Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; 2Institut NeuroMyoGene, UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice 1Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy; 2European School of Molecular Medicine (SEMM); 3Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Milan, Italy; 4Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Naples, Italy; 5Institute of Biochemistry and Cellular Biology (IBBC), National Research Council (CNR), Monterotondo (RM), Italy; 6Dep. of Precision Medicine, University of Campania "L. Vanvitelli", Caserta, Italy; 7Dep. of Translational Medicine, University of Naples "Federico II", Naples, Italy Succinate does not increase reactive oxygen species generation in phosphorylating human mitochondria 1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2Department of Anesthesiology, Tokyo Medical University, Tokyo, Japan; 3Abliva, AB, Lund, Sweden; 4Otorhinolaryngology Head and Neck Surgery, Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human 1MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France); 2Pharmacology laboratory UR7296, Strasbourg University - Strasbourg (France); 3Côte d'Azur University, CNRS, Institute of Chemistry- Nice (France); 4IRCAN, UMR 7284 INSERM U1081/UCA - Nice (France); 5IBGC Institute, CNRS UMR 5095 - Bordeaux (France); 6Institute for Integrative Biology of the Cell I2BC, UMR9198, University of Paris-Saclay - Paris (France) Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models 1IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice, France; 3Université Côte d’Azur, Inserm U1065, C3M, Nice, France; 4Université Paris Saclay, CEA, CNRS, I2BC, Gif-sur-Yvette, France; 5Université Côte d’Azur, CNRS UMR 7272, ICN, Nice, France; 6Université Paris Descartes-Sorbonne Paris Cité, Inserm U1163, Imagine Institute, Paris, France; 7IBGC, UMR5095 CNRS, Bordeaux, France; 8CRBS, UR7296, Strasbourg, France; 9Université d'Angers, UMR CNRS 6015 – INSERM U1083, Angers, France Lithospermum erythrorhizon complexs extract prevents dexamethasone-induced muscle atrophy in mice Korea Food Research Institute, Korea, Republic of (South Korea) Myocardial regeneration therapy using human cardiosphere-derived cells with activated mitochondria 1Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 2Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 3Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan Quinone compounds in primary mitochondrial disease: in vitro characterization of NQO1-mediated NAD+/NADH modulation 1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2Isomerase Therapeutics Ltd, Chesterford Research Park, Cambridge, UK; 3Abliva AB, Lund, Sweden Metformin in mitochondrial disease patients cardiac cells University of Eastern Finland, Finland Mavodelpar clinical development program in adult patients with primary mitochondrial myopathy (PMM): results from Phase 1b study and design of ongoing pivotal study (STRIDE). 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3Wellcome Centre for Mitochondrial Research, Newcastle University, UK; 4NIHR Newcastle Biomedical Research Centre, Newcastle University, UK; 5Paramstat Ltd., UK; 6Reneo Pharma Ltd., UK; 7Reneo Pharmaceuticals Inc., USA; 8Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy; 9Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease 1OMEICOS Therapeutics GmbH, Germany; 2University of Alberta, Canada; 3Max-Delbrueck Center for Molecular Medicine, Germany Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study 1Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 2Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 3IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 6Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 7Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 8GenSight Biologics, Paris, France; 9Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France Current status of the phase 3 trial of dichloroacetate (DCA) for pyruvate dehydrogenase complex deficiency (PDCD) 1University of Florida, United States of America; 2Saol Therapeutics, United States of America Efficacy and safety of elamipretide in subjects with primary mitochondrial disease resulting from pathogenic nuclear DNA mutations (nPMD): phase 3 study design 1Massachusetts General Hospital, Harvard Medical School Boston, MA, United States of America; 2Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity categories according to mitochondrial DNA mutation and disease phase 1John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 2Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 3Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 4Institute of Ophthalmology, University College London, London, United Kingdom; 5IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 6Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 7Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 8The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9Chiesi Farmaceutici S.p.A., Parma, Italy; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity over time according to mitochondrial DNA mutation and disease phase 1Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 2John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 5Institute of Ophthalmology, University College London, London, United Kingdom; 6IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9Chiesi Farmaceutici S.p.A., Parma, Italy; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to primary mitochondrial DNA mutation 1Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 2Institute of Ophthalmology, University College London, London, United Kingdom; 3The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 4John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 5Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 6Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 7IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 8Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 9Chiesi Farmaceutici S.p.A., Parma, Italy; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series 1IRCCS Istituto Scienze Neurologiche di Bologna, Italy; 2IRCCS Policlinico Sant’Orsola-Malpighi di Bologna, Bologna, Italy; 3Department of Clinical and experimental Medicine, University of Messina, Messina, Italy; 4Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena; 5Institute of Neurology, University of Verona, Verona, Italy; 6Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili", Brescia, Italy; 7Department of Medico-Surgical Sciences and Biotechnologies, University ‘La Sapienza’, Roma, Italy; 8Department of Morphology, Surgery and Experimental Medicine, St. Anna Hospital, University of Ferrara, Ferrara, Italy Developing mouse models to investigate the molecular mechanisms of POLG-related diseases 1Venetian Institute of Molecular Medicine, Padova; 2Department of Neuroscience, University of Padova; 3Department of Biomedical Sciences, University of Padova; 4Dept. Medical Chemistry & Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg; 5Mitochondrial Biology Unit, MRC/University of Cambridge, Cambridge, UK Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to disease phase 1Chiesi Farmaceutici S.p.A., Parma, Italy; 2John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 5Institute of Ophthalmology, University College London, London, United Kingdom; 6IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 9The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Validation of drug delivery and functional activation to mitochondria in skeletal muscle cell 1Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 3Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4Fusion Oriented research for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan Novel approaches to modulate mutant mitochondrial DNA in patient-derived induced-pluripotent stem cells 1Department of Pharmacology and Toxicology, University of Toronto, Toronto, Canada; 2Department of Molecular Genetics, University of Toronto, Toronto, Canada; 3Department of Psychiatry, University of Toronto, Toronto, ON, Canada Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease 1NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 3Department of Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 4Department of Neurology, Gregorio Marañón University Hospital, Madrid, Spain; 5Nuffield Department of Women’s & Reproductive Health, University of Oxford, Oxford, UK Hepatoencephalopathy due to GFM1 mutations: generation of a mouse model and preclinical study of an AAV-based gene therapy for the disease 1Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona - Barcelona (Spain); 2Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III - Madrid (Spain); 3Pathology Department, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona - Barcelona (Spain); 4Programa de Terapia Génica y Regulación de la Expresión Génica, Centro de Investigación Médica Aplicada (CIMA), Universidad de Navarra - Pamplona (Spain); 5Instituto de Investigación Sanitaria de Navarra, IdiSNA - Pamplona (Spain) Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior 1Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; 2Neonatal Research Group, Health Research Institute La Fe, 46026 Valencia, Spain; 3Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; 4Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France; 5Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome 1Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; 2Seattle Children’s Hospital, Seattle, WA, USA; 3Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona-IDIBAPS, Barcelona.; 4Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona; 5Muscle Research and Mitochondrial Function Lab, Cellex - IDIBAPS. Faculty of Medicine and Health Science - University of Barcelona (UB), Barcelona.; 6Department of Internal Medicine, Hospital Clínic of Barcelona.; 7Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.; 8Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A. Mechanisms of mtDNA maintenance and segregation in the female germline 1Karolinska Institutet, Stockholm, Sweden; 2MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3Department of Clinical Neurosciences, University of Cambridge, United Kingdom Processing of mitochondrial RNA in health and disease: the role of FASTKD5. 1The Neuro & McGill University, Montreal, Quebec, Canada; 2Dell School of Medicine, University of Texas at Austin, Austin, TX, USA The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology 1University of Miami, United States of America; 2Harvard Medical School, United States of America Host-microbiome co-adaptation to severe nutritional challenge 1Department of Biomolecular Sciences, Weizmann Institute of Science, Israel; 2Life Sciences Core Facilities, Weizmann Institute of Science, Israel The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling 1University of Turin, Department of Molecular Biotechnology and Health Sciences; 2Department of Pediatrics, University of California San Francisco, San Francisco, United States; 3Department of Medical Sciences, Section of Experimental Medicine, Laboratory for Technologies of Advanced Therapies, University of Ferrara, Ferrara, Italy; 4Université de Paris, NeuroDiderot, Inserm, 75019 Paris, France; 5Instituto de Ciencias de la Salud, Universidad de O'Higgins, Rancagua, Chile; 6Leibniz Institute of Analytical Sciences, ISAS, Dortmund, Germany; 7Department of Oncology, University of Torino, Italy; 8Department of Pediatric Neurology, Developmental Neurology, and Social Pediatrics, Center for Neuromuscular Disorders in Children and Adolescents, University of Duisburg-Essen, Essen, Germany Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models 1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations. 1Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy The mitoDdCBE system as a mitochondrial gene therapy approach 1University of Miami, United States of America; 2Max Planck Institute of Biochemistry, Germany; 3Broad Institute, Harvard University, and HHMI, United States of America Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy 1Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9Helsinki University Hospital Diagnostic Centre, Helsinki, Finland PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients. 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16Service d'Ophtalmologie, CHU de Caen, Caen, France; 17Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18Retina Consultants, P.C, Hartford, Connecticut, USA; 19Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21GenSight Biologics, Paris, France; 22Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases. 1Novosibirsk State University, Novosibirsk, Russia; 2Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3Skolkovo Institute of Science and Technology, Moscow, Russia Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome 1Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS 1Precision BioSciences - Durham, NC, United States of America; 2University of Miami - Miami, FL, United States of America Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro 1Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 2Protein Expression and Purification Facility, Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 3Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy; 4Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 5Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany; 6Molecular Cell Biology Section, Department of Biomedical Sciences of Cells & Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 7Expertise Center Movement Disorders Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 8Department of Neurology and Epileptology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; 9Alembic, Experimental Imaging Center, IRCCS San Raffaele Hospital, 20132 Milan, Italy; 10Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany; 12German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; 13Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2Department of Biology, University of Padua, Italy; 3Department of Clinical Medicine, University of Bergen, Norway; 4Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Israel; 5Molecular Medicine, IRCCS Fondazione Stella Maris, Italy; 6Department of Biomedical Sciences, University of Padova, Italy; 7Department of Neurosciences, University of Padova, Italy Mitochondrial derived vesicles retain membrane potential and contain a functional ATP synthase 1Hebrew university, Israel; 2Technion, Haifa, Israel; 3Weizmann Institute of Science, Rehovot, Israel; 4Kimron Veterinary Institute, Bet Dagan, Israel; 5Hadassah Medical Center and Faculty of Medicine, Hebrew University, Jerusalem Israel Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease 1Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg; 2Institute of Neurogenetics, University of Lübeck, Lübeck, Germany ATP synthase c-subunit leak metabolism associated with abnormal mitophagic clearance 1University College London, United Kingdom; 2Yale University , USA Investigating the role of mitochondrial regulators in sorafenib and lenvatinib resistance in HCC cell line 1Department of Pharmacological and Biomolecular Sciences - DiSFeB, University of Milan, Italy; 2Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy Glucose-derived glutamate drives neuronal differentiation 1Department of Pharmacological and Biomolecular Sciences -DiSFeB, Università degli Studi di Milano, Milan, Italy; 2Department of Medical Biotechnology and Translational Medicine - BIOMETRA, Università degli Studi di Milano, Milan, Italy; 3Institute of Neuroscience, IN-CNR, Milan, Italy; 4Department of Molecular and Cellular Biology, University of Geneva, Geneva, Switzerland; 5Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy. |
4:15pm - 6:15pm | Patients' session Location: Bologna Congress Center - Sala Europa Chairs: Kira Mann, Paula Morandi 16:15 – 16:35 Mitochondrial Diseases in childhood: hope for the future – Robert McFarland 16:35 – 16:55 Advances in clinical diagnosis and management of mitochondrial disorders, Holger Prokish 16:55 – 17:15 New therapies for mitochondrial diseases – an update, Carlo Viscomi 17:15 – 17:35 Gene therapy for mitochondrial optic neuropathies – an update, Patrick Yu Wai Man 17:35 – 18:05 Ask the Mito Doc. Discussion with patients and experts 18:05 – 18:15 Q&A |
8:00pm - 10:00pm | Conference Dinner Location: Palazzo Re Enzo |