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 | |
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Location: Bologna Congress Center - Sala Europa Address: Piazza della Costituzione, 4/a, Bologna (BO), Italy |
| Date: Sunday, 11/June/2023 | |
| 11:00am - 1:00pm | E-MIT Assembly Location: Bologna Congress Center - Sala Europa |
| 1:00pm - 2:00pm | Lunch Location: Bologna Congress Center - Sala Europa |
| 2:30pm - 3:00pm | Opening Ceremony Location: Bologna Congress Center - Sala Europa |
| 3:00pm - 3:45pm | Keynote Lecture: Doug Turnbull Location: Bologna Congress Center - Sala Europa |
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Invited
Mitochondrial disease: past successes and future challenges Newcastle University, United Kingdom |
| 4:00pm - 5:30pm | Session 1.1: The impact of mtDNA variation and environment on rare and common diseases Location: Bologna Congress Center - Sala Europa Session Chair: Ian Holt Session Chair: Emanuela Bottani Invited Speakers: P. Chinnery; A. Enriquez |
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The role of mtDNA variation in common and rare diseases Cambridge-UK, United Kingdom Invited
How mtDNA can talk with the complex landscape of nuclear encoded OXPHOS information? Spanish National Center for Cardiovascular Research (CNIC) Oral presentation
Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database 1Université Côte d’Azur, INSERM U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France; 2Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France; 3Réseau français des laboratoires de diagnostic pour les maladies mitochondriales (Bordeaux, Caen, Grenoble, Lille, Lyon, Le Kremlin-Bicêtre, Pitié Salpêtrière, Necker Enfants Malades, Reims), Centres de référence pour les maladies mitochondriales (CALISSON, CARAMMEL), France; 4Université de Nantes, Nantes, France; 5Université Côte d’Azur, MDLab, Nice, France; 6Filière FILNEMUS, CHU La Timone, Marseille, France; 7INRIA, Equipe EPIONE, Nice, France; 8University of Leicester, Dept.Genetics, UK Oral presentation
Generating a complete human panmitogenome 1The Rockefeller University, United States of America; 2Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy; 3Medical University of Innsbruck, 6020 Innsbruck, Austria; 4Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA; 5Medical University of Innsbruck, 6020 Innsbruck, Austria; 6Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy; 7IRCCS Institute of Neurological Sciences of Bologna; 8Forensic Science Program, The Pennsylvania State University, University Park, PA, USA Oral presentation
Negative selection of mitochondrial DNA mutations in the blood 1Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne; 2The Human Dendritic Cell Lab, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne; 3NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne; 4Equal Contributions; 5Equal Contributions Flash Talk
Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4 1Azienda USL di Bologna - IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 3Istituto Italiano di Tecnologia – IIT, Genova, Italy; 4Instituto de Olhos de Colatina, Colatina, Espírito Santo, Brazil; 5Departamento de Oftalmologia e Ciências Visuais, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, São Paulo, Brazil; 6Doheny Eye Institute, Los Angeles, CA, USA; Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; 7Medical Research Council Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK Flash Talk
PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: dissecting the role of cell-free circulating mtDNA and copy number 1Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; 2Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; 3Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy |
| 5:30pm - 6:15pm | Show Location: Bologna Congress Center - Sala Europa |
| 6:15pm - 7:00pm | Transfer to Cocktail Venue Location: Bologna Congress Center - Sala Europa |
| Date: Monday, 12/June/2023 | |
| 9:00am - 10:45am | Session 2.1: mtDNA maintenance and expression Location: Bologna Congress Center - Sala Europa Session Chair: Zofia Chrzanowska-Lightowers Session Chair: Massimo Zeviani Invited Speakers:
M. Falkemberg; A. Filipovska |
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Initiation of mitochondrial DNA replication in mammalian cells. Gothenburg University, Sweden Invited
Regulation of mitochondrial gene expression in disease University of Western Australia, Australia Oral presentation
Mitochondrial translation termination at non-canonical stop codons 1Karolinska Institutet, Stockholm, Sweden; 2University of Pennsylvania, Pennsylvania, USA; 3Max-Planck-Institute for Biology of Ageing, Cologne, Germany Oral presentation
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability 1Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden; 2Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 3Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 4Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 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, NE1 4LP, UK; 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 WC1N 3BG, UK; 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, NC 27101, 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 Oral presentation
The role of replicative exonucleases in mitochondrial DNA replication and degradation University of Miami Miller School of Medicine, United States of America Flash Talk
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 Flash Talk
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 Flash Talk
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 |
| 11:00am - 12:45pm | Session 2.2: Clinical 1: from new genes to old and novel phenotypes Location: Bologna Congress Center - Sala Europa Session Chair: Agnes Rotig Session Chair: Daniele Ghezzi Invited Speakers: R. Horvath; H. Prokisch |
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The role of mitochondria in neuromuscular diseases Cambridge-UK, United Kingdom Invited
Innovative approaches for the molecular diagnosis of mitochondrial disorders Technical University Munich Institute of Human Genetics Oral presentation
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing 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; 3Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 4Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 6Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 7National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK; 8Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; 9Genomics England, One Canada Square London, UK Oral presentation
Biallelic variants in MCAT in an infant with lactic acidosis, lipoylation disorder, and early death 1University Children's Hospital, Paracelsus Medical University, Salzburg, Austria; 2Institute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany; 3Current address: Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany; 4Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany; 5Amalia Children’s Hospital, Radboudumc, Nijmegen, The Netherlands. Oral presentation
Biallelic PTPMT1 variants impair cardiolipin metabolism and cause mitochondrial myopathy and developmental regression 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; 3Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 4Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey; 5Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 7Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; 8Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 9Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University, Newcastle upon Tyne, UK; 10Genomics England, London, UK; 11Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; 12Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt; 13Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; 14Izmir Biomedicine and Genome Center, Izmir, Turkey; 15Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir Turkey Flash Talk
Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy 1IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2Studio Oculistico d'Azeglio - Bologna (Italy); 3Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER) - Madrid (Spain); 7Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11Depart. of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna - Bologna (Italy) Flash Talk
Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population? 1Human Metabolomics, North-West University, Potchefstroom, South Africa; 2Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/global-contributor-list Flash Talk
AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions 1Fondazione IRCCS Istituto Neurologico Besta, Italy; 2Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy Flash Talk
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. |
| 12:45pm - 1:45pm | Lunch Location: Bologna Congress Center - Sala Europa |
| 1:45pm - 3:30pm | Session 2.3: Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity Location: Bologna Congress Center - Sala Europa Session Chair: Cristina Ugalde Session Chair: Giovanni Manfredi Invited Speaker: E. Fernandez-Vizarra; A. Prigione |
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Metabolic adaptations of respiratory chain organization and function 1Department of Biomedical Sciences, University of Padova, Italy; 2Veneto Institute of Molecular Medicine, Padova, Italy Invited
Pluripotent stem cells and brain organoids for drug discovery of mitochondrial diseases Heinrich Heine University, Düsseldorf, Germany Oral presentation
High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Oral presentation
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. 1Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; 4IRCCS, Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy Oral presentation
Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease 1STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA; 3Buck Institute for Research on Aging, Novato, CA 94945, USA; 4Gladstone Institutes and University of California, San Francisco, CA 94158, USA; 5Department of Physics, University of Helsinki, Finland; 6HiLIFE Institute of Biotechnology, University of Helsinki, Finland; 7Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark; 8Unit of Cellular Biology and Mitochondrial Diseases, “Bambino Gesù” Children's Hospital, IRCCS, Rome, Italy; 9Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada; 10Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA Flash Talk
The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain 1Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain Flash Talk
Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 1Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia Flash Talk
Microproteins in metabolic regulation 1Duke-NUS Medical School, Singapore; 2University of Melbourne, Australia; 3University of Utah, USA; 4University of Southampton, UK |
| 3:30pm - 3:50pm | Industry Workshop: Abliva AB Location: Bologna Congress Center - Sala Europa |
| 4:30pm - 6:00pm | Session 2.4: New technological developments and OMICS Location: Bologna Congress Center - Sala Europa Session Chair: Holger Prokisch Session Chair: Leonid Sazanov Invited Speaker: :S. Churchman; :H. Hillen |
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Decoding the regulatory principles of mitochondrial DNA: packaging, expression, and impact on cellular metabolism Harvard Medical School, United States of America Invited
Mechanisms of mitochondrial RNA biogenesis in health and disease 1Department of Cellular Biochemistry, University Medical Center Göttingen, Germany; 2Research Group Structure and Function of Molecular Machines, Max-Planck-Institute for Multidisciplinary Sciences Göttingen, Germany Oral presentation
Disruption of mitochondrial function induces cell lineage-specific compensatory transcriptional responses during early embryonic development 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden; 6Max Planck Institute for Biology of Ageing, Cologne, Germany; 7Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Oral presentation
Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells 1Department of Pathology, Stanford University, Stanford, CA 94305, USA; 2Parker Institute of Cancer Immunotherapy, San Francisco, CA 94129, USA; 3Department of Genetics, Stanford University, Stanford, CA 94305, USA; 4Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; 5Division of Hematology / Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; 6Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; 7Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 10115 Berlin, Germany; 8Institute of Biotechnology, Technische Universität Berlin, Berlin, Germany; 9Department of Biology, Chemistry, Pharmacy, Freie Universität Berlin, Berlin, Germany; 10Technology Innovation Lab, New York Genome Center, New York, NY 10013, USA; 11Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02134, USA; 12Center for Pediatric Neurosciences, Mitochondrial Medicine, Cleveland Clinic, Cleveland, OH 44195, USA; 13Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA; 14Department of Pediatric Oncology, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, 13353 Berlin, Germany; 15Department of Computer Science, Stanford University, Stanford, CA 94305, USA; 16Department of Biology and Koch Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; 17Current address: Immunai, New York, NY 10114, USA; 18Current address: 10x Genomics, San Francisco, CA 94111, USA; 19Current address: Genentech, San Francisco, CA 94080, USA Flash Talk
Quantifying mitochondrial proteome remodeling during macrophage polarization University of Lausanne, Switzerland Flash Talk
Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription 1Folkhalsan Research Center, Finland; 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki Flash Talk
Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements 1Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2University of Milan (Milan, Italy) |
| Date: Tuesday, 13/June/2023 | |
| 9:00am - 10:45am | Session 3.1: Inflammation and Immunity as mitochondrial contributor to pathology Location: Bologna Congress Center - Sala Europa Session Chair: Jose Antonio Enriquez Session Chair: Daria Diodato Invited Speakers:
S. Pluchino; M. Mittelbrunn |
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Fuels and drivers of smouldering brain disease University of Cambridge, United Kingdom Invited
Immunometabolisms at the crossroad between inflammation and aging CSIC- Consejo Superior de Investigaciones Cientificas, Spain Oral presentation
Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease 1Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain; 2Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona, Barcelona, Spain; 3Clinical Neuroproteomics Unit, Navarrabiomed, Complejo Hospitalario de Navarra (CHN), Universidad Pública de Navarra (UPNA), Pamplona, Spain; 4Centro de Análisis Genómico, CNAG-CRG, Barcelona, Spain Oral presentation
The contribution of cell free-mitochondrial DNA in the pathogenesis of MELAS syndrome 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Italy; 2Department of Biomedical and NeuroMotor Sciences, University of Bologna, Italy Oral presentation
A novel role for the mitochondrial topoisomerase TOP1MT in mediating mtDNA release and cGAS-STING activation 1University of Calgary, Canada; 2National Institutes of Health; 3Texas A&M University; 4University of British Columbia Flash Talk
Impaired inflammatory response to lipopolysaccharide in fibroblasts from patients with long-chain fatty acid oxidation disorders 1Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 2Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark; 3Department of Biomedicine, Aarhus Research Center for Innate Immunology, Aarhus University, Aarhus, Denmark; 4Department of Experimental Vascular Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 5Core Facility Metabolomics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands Flash Talk
Fumarate induces mtDNA release via mitochondrial-derived vesicles and drives innate immunity 1Medical Research Council, MBU,University of Cambridge, UK; 2Medical Research Council Cancer Unit,University of Cambridge, UK; 3CECAD Research Centre, University of Cologne, Cologne, Germany Flash Talk
Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate 1Unit of Cellular Biology and Diagnosis of Mitochondrial Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 2Division of Rheumatology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 3Division of Metabolism, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 4Research Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy |
| 11:00am - 12:40pm | Session 3.2: Mitochondrial mechanisms in neurodegeneration and neurodevelopment Location: Bologna Congress Center - Sala Europa Session Chair: Vincent Procaccio Session Chair: Elena Rugarli Invited Speaker: V. Paquis-Flucklinger; L. Burbulla |
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Destructuring of mitochondrial cristae in the initiation of CHCHD10-related neurodegeneration 1IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2Reference Center for mitochondrial diseases, Universitary hospital, Nice, France Invited
Convergence of mitochondrial and lysosomal dysfunction in Parkinson’s disease Ludwig Maximilian University (LMU) Munich, Germany Oral presentation
Development of cortical organoids to model m.3243A>G disease and understand cell specificity University of Cambridge, United Kingdom Oral presentation
Brain and brainstem-specific mitochondrial diversity associated with vulnerability to neurodegeneration in mitochondrial diseases 1Division of Behavioral Medicine, Department of Psychiatry, Columbia University Irving Medical Center, New York NY, USA; 2Center for Translational & Computational Neuroimmunology, Department of Neurology and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Irving Medical Center, New York NY, USA; 3Division of Molecular Therapeutics, Department of Psychiatry, Columbia University Irving Medical Center, New York NY, USA; 4Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; 5Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA; 6New York State Psychiatric Institute, New York NY, USA; 7Department of Neurology, Columbia University Irving Medical Center, New York NY, USA Oral presentation
Mitochondrial DNA mutations exacerbate motor and behavioural deficits in a mouse model of Parkinson’s disease 1Clinical and Translational Research Institute, Centre for Life, Newcastle University, UK, NE3 1BZ; 2Department of Clinical Neuroscience, University of Cambridge, UK, CB2 0QQ; 3Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK, CB2 0QQ; 4Division of Molecular Metabolism, Biomedicum, floor 9D, Solnavägen 9, Karlolinska Institute, 171 65 Stockholm, Sweden; 5Newcastle Magnetic Resonance Centre, Campus for Ageing and Vitality, Newcastle University, NE4 5PL Flash Talk
Macromolecular crowding: A novel player in mitochondrial physiology and disease 1Radboud University Medical Center, The Netherlands; 2University of Amsterdam, The Netherlands; 3King's College, London, UK; 4University of Twente, The Netherlands; 5Wageningen University, The Netherlands Flash Talk
Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction 1Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; 3Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; 4Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; 5Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; 6Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; 7Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) and Center for Molecular Medicine Cologne, University of Cologne, Germany Flash Talk
The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy 1School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; 2Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; 3Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; 4Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; 5The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; 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; 8The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia |
| 12:40pm - 12:45pm | Conference Picture Location: Bologna Congress Center - Sala Europa |
| 12:45pm - 1:15pm | Industry Workshop: Oroboros Location: Bologna Congress Center - Sala Europa |
| 12:45pm - 1:45pm | Lunch Location: Bologna Congress Center - Sala Europa |
| 1:45pm - 3:30pm | Session 3.3: Metabolic stress responses in mitochondrial diseases and cancer Location: Bologna Congress Center - Sala Europa Session Chair: Luca Scorrano Session Chair: Luisa Iommarini Invited Speaker: A. Trifunovic; L. Greaves |
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Transcriptional regulation of mitochondrial stress responses University of Cologne, Germany Invited
Mitochondrial DNA mutations in ageing and cancer - what's the connection? 1Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3CRUK Beatson Institute, Glasgow, United Kingdom Oral presentation
Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria 1Folkhälsan Research Center, Finland; 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Finland; 3Viikki Metabolomics Unit, University of Helsinki, Finland; 4Division of Infection Medicine, Department of Clinical Sciences, Lund University, Sweden; 5Colzyx AB, Lund, Sweden; 6Department of Clinical Sciences, Lund, Pediatrics, Lund University, Sweden; 7Children’s Hospital, Helsinki University Hospital, Finland Oral presentation
A genetic deficiency screen in vivo reveals rescue mechanisms of mitochondrial dysfunction 1Karolinska Institutet, Sweden; 2Max-Planck Institute of Biochemistry, Germany; 3University of Cambridge, Cambridge Biomedical Campus, UK Oral presentation
Heterochromatin Protein 1 controls gene expression and longevity in response to mitochondrial dysfunction 1Andalusian Centre for Developmental Biology (CABD). CSIC-Universidad Pablo de Olavide-Junta de Andalucía. Carretera de Utrera Km 1, 41013 Sevilla, Spain.; 2Department of Molecular Biology and Biochemical Engineering, Universidad Pablo de Olavide. Carretera de Utrera Km 1, 41013 Seville, Spain; 3Department of Biochemistry, Medical School, Kochi University, Kohasu, Oko-cho, Nankoku, Kochi 783-8505, Japan. Flash Talk
High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice Weill Cornell Medicine, United States of America Flash Talk
Functional characterisation of the human mitochondrial disaggregase, CLPB 1Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville VIC 3010, Australia; 2Murdoch Children’s Research Institute, Royal Children’s Hospital and Department of Paediatrics, The University of Melbourne, Parkville VIC 3052, Australia; 3Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Parkville VIC 3052, Australia Flash Talk
The mitochondrial inhibitor IF1 has a dual role in cancer 1Department of Biomedical and Neuromotor Sciences, University of Bologna; 2Department of Chemical Science, University of Padova; 3Department of Biology, University of Padova, Padova |
| 3:30pm - 3:50pm | Industry Workshop: UCB Farchim SA Location: Bologna Congress Center - Sala Europa |
| 4:30pm - 6:00pm | Session 3.4: Clinical 2: natural history, biomarkers and outcome measures Location: Bologna Congress Center - Sala Europa Session Chair: Costanza Lamperti Session Chair: Alessandra Maresca |
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Optimising interventional trials: how natural history studies and digital technologies can drive innovation 1Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; 2University of Pisa, Italy Invited
Identifying circulating biomarkers to monitor mitochondrial disease severity Massachusetts General Hospital, United States of America Oral presentation
National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; 3National Disease Registration Service, NHS Digital, Leeds, UK; 4Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 5NHS Highly Specialised Services for Rare Mitochondrial Disorders – Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK Oral presentation
Status epilepticus in POLG disease 1Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Norway; 2Department of Clinical Medicine (K1), University of Bergen, Norway; 3Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 4Department of Neuropediatrics, Astrid Lindgren Childrens Hospital, Karolinska University Hospital, Stockholm, Sweden; 5Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; 6Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway; 7Paediatric Research Group, Department of Clinical Medicine, UiT- The Arctic University of Norway, Tromso, Norway; 8Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway and Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway; 9Department of Neurology, Oslo University Hospital, Oslo, Norway; 10Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; 11Department of Neuroscience and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway; 12Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway; 13Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; 14Facultiy of Health, Medicine and Life Sciences, Department of Toxicology, , University of Maastricht, Maastricht, The Netherlands; 15Neurometabolic Disorders Unit, Department of Child Neurology/ Department of Genetics and Molecular Medicine, Sant Joan de Déu Children´s Hospital, Barcelona, Spain; 16Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; 17Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; 18Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; 19Department of Pediatric Neurology, Clinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland; 20Research Unit of Clinical Medicine, Neurology, and Medical Research Center Oulu, Oulu University hospital and university of Oulu, Oulu Finland; 21Neurocenter , Oulu University Hospital ,Oulu Finland; 22Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain; 23European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain; 24Norwegian national Unit for Newborn Screening, Division of Pediatric and adolescent Medicine, Oslo University Hospital, Oslo, Norway; 25European Reference Network for Hereditary Metabolic Disorder; 26Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway; 27Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 28Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden; 29Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; 30Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 31Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway Flash Talk
Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist. 1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 2National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 4NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 5The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 6Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 7NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK Flash Talk
Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients 1Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 2Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 3IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 5Sue Anschutz-Rodgers University of Colorado Eye Center, University of Colorado School of Medicine, Aurora, CO, USA; 6Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 7Department of Ophthalmology, Taipei Veterans General Hospital, National Yang Ming Chiao Tung University, Taipei, Taiwan; 8Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 9Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital, and Department of Head & Skin, Ghent University, Ghent, Belgium; 10Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 11Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 12Department of Ophthalmology, Alcala University, Madrid, Spain; 13Department of Ophthalmology, Massachusetts Eye & Ear, Harvard Medical School, Boston, MA, USA; 14Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 15GenSight Biologics, Paris, France; 16Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France Flash Talk
The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE) 1Columbia University Irving Medical Center, United States of America; 2Université de Montréal, Canada; 3Université de Bordeaux, France; 4Dartmouth College, Uniter States of America |
| Date: Wednesday, 14/June/2023 | |
| 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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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 |
| 10:45am - 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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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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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 |
| 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 |
| Date: Thursday, 15/June/2023 | |
| 9:00am - 10:40am | Session 5.1: Late breaking news session Location: Bologna Congress Center - Sala Europa Session Chair: Valeria Tiranti Session Chair: Valerio Carelli |
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Oral presentation
Improving the diagnosis of mitochondrial disease with public funding for whole genome sequencing Neuroscience Research Australia Oral presentation
SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation 1Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA; 2Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA; 3David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA; 4Department of Biology, MIT, Cambridge, MA, USA; 5Harvard-MIT MD/PhD Program, Boston, MA, USA; 6Whitehead Institute for Biomedical Research, Cambridge, MA, USA; 7Cancer Research, Massachusetts General Hospital, Boston MA, USA; 8Cutaneous Biology Research Center, Massachusetts General Hospital Department of Dermatology, Harvard Medical School, Boston, MA; 9Unafilliated; 10Harvard T.H. Chan School of Public Health, Boston, MA, USA; 11Dana-Farber Cancer Institute, Boston, MA, USA Oral presentation
The transcriptional effects of thyroid hormone T3 on mitochondrial metabolism during neurodevelopment 1Section of Pharmacology, Department of Diagnostics and Public Health, University of Verona, Verona, Italy; 2Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; 3Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Verona, Italy Oral presentation
Transplanting ipsc-derived mitochondria: a promising approach for treating mitochondrial optic neuropathies Institute of Molecular and Cell Biology, A*STAR Research Entities, Singapore 138673, Singapore Flash Talk
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 Flash Talk
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 Flash Talk
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 Remote connection - Oral Presentation
Nuclear genetic control of mtDNA homeostasis revealed from >250,000 human genomes Broad Institute; Mass Gen Hospital, Harvard Medical School |
| 10:55am - 12:10pm | Keynote Lectures: Carlos Moraes - Thomas Becker Location: Bologna Congress Center - Sala Europa Session Chair: Luigi Palmieri Session Chair: Nils-Göran Larsson |
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Promises and Perils of mitochondrial DNA Gene Editing 1University of Miami, United States of America; 2Precision Biosciences, United States of America Invited
Control of mitochondrial protein import University of Bonn, Germany |
| 12:10pm - 12:50pm | Closing Lecture: Anu Suomalainen Location: Bologna Congress Center - Sala Europa |
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Quo vadis, mitochondrial medicine Helsinki-Finland |
| 12:50pm - 1:00pm | Announcement of Award Winners Location: Bologna Congress Center - Sala Europa |
| 1:00pm - 1:10pm | Presentation of the next Euromit Conference Location: Bologna Congress Center - Sala Europa |
| 1:30pm - 2:30pm | Lunch Location: Bologna Congress Center - Sala Europa |
| 2:30pm - 6:00pm | Satellite Symposium: Mitochondrial optic neuropathies, the tip of the mito-iceberg Location: Bologna Congress Center - Sala Europa To see the full programme of this Meeting, visit our website on this page. |