Time to Euromit 2023


Sunday June 11th, 2023

Doug Turnbull

Inaugural Key-Note Lecture

Doug Turnbull is Emeritus Professor of Neurology at Newcastle University. Previously he ran the NHS Highly Specialised Service of Mitochondrial Disease, was Director of the Wellcome Centre for Mitochondrial Research and Director MRC/BBSRC Centre for Ageing and Vitality.

Patrick Chinnery

Session 1.1 The impact of mtDNA variation and environment on rare and common diseases

Patrick Chinnery is Professor of Neurology and Head of the Department of Clinical Neurosciences at the University of Cambridge and clinical neurologist at Addenbrooke’s Hospital. A Wellcome Trust Principal Research Fellow, his research lab is based in the MRC Mitochondrial Biology Unit. He is known for his expertise in rare inherited diseases that affect the nervous system. His lab has been studying the genetic basis of mitochondrial disorders for over two decades, harnessing the power of whole genome sequencing and developing new treatments through experimental medicine and early phase trials. He jointly chairs the NIHR BioResource for Translational Research in Common and Rare diseases, and is Clinical Director of the Medical Research Council. During the COVID-19 pandemic he established the UK COVID-19 Therapeutics Advisory Panel (UK-CTAP) to independently prioritise candidate treatments for evaluation in the nationally funded clinical trials platforms from phase 1 to phase 3, and was National Core Study lead for Therapeutics.

Monday June 12th, 2023

Maria Falkenberg

Session 2.1 mtDNA maintenance and expression

Aleksandra Filipovska

Session 2.1 mtDNA maintenance and expression

Professor Aleksandra Filipovska is the Deputy Director of the ARC Centre of Excellence in Synthetic Biology and NHMRC Senior Research Fellow at the University of Western Australia, the Harry Perkins Institute of Medical Research and Telethon Kids Institute in Perth, Australia. She received her PhD from the University of Otago, New Zealand and she was a NZ Foundation for Research, Science and Technology Fellow at the MRC Mitochondrial Biology Unit in Cambridge, the United Kingdom. She established her group in 2006 focusing on the regulation of mitochondrial and nuclear gene expression by RNA-binding proteins and the use of animal models and multi-omic technologies to elucidate their molecular functions in health and disease. Her research group uses genomic technologies to design new models of metabolic and cardiovascular diseases and develops treatments for these disorders. She is a Fellow of the Australian Academy of Health and Medical Sciences.

Rita Horvath

Session 2.2 Clinical 1: from new genes to old and novel phenotypes
Rita Horvath is a clinical academic who was trained as a neurologist in Budapest, Hungary where completed her PhD on mitochondrial disease. She has been working as a postdoctoral scientist in the mitochondrial diagnostic and research in Munich, Germany until 2007, when she was appointed as Lecturer in the Mitochondrial Research Group at Newcastle University. She has established her research group to study mitochondrial translation deficiencies and developed a clinical service in Newcastle for patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT). In September 2018 she joined the Department of Clinical Neurosciences at the University of Cambridge. The focus of her research is to identify key molecular disease mechanisms with the aim of developing treatments for patients with rare inherited neurological conditions, such as mitochondrial disease and CMT.

Holger Prokisch

Session 2.2 Clinical 1: from new genes to old and novel phenotypes

Erika Fernandez-Vizarra

Session 2.3 Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity

Alessandro Prigione

Alessandro Prigione

Session 2.3 Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
Alessandro Prigione is a tenured Associate Professor of Pediatric Metabolic Medicine in the Department of General Pediatrics at Heinrich Heine University (HHU) in Düsseldorf, Germany.
Dr. Prigione received an MD from the University of Milan Italy and a PhD from the University of Milan-Bicocca Italy. During his training, he worked on mitochondrial diseases at University California Davis (UCD) USA, and on cellular reprogramming at San Raffaele Institute in Milan Italy and at Max Planck Institute in Berlin Germany. Before his current position, he was leading a BMBF-supported junior group at the Max Delbrück Center (MDC) in Berlin Germany.
The Prigione group uses induced pluripotent stem cells (iPSCs) and brain organoids to model neurological mitochondrial diseases. A specific target is Leigh syndrome, a severe mitochondrial disease for which there are no cures available. Through compound screenings performed on patient-derived neural cells, the lab aims to identify effective drugs that can be repositioned for the treatment of Leigh syndrome. This is the focus of a current international Consortium coordinated by Dr. Prigione (CureMILS) that is supported by the European Joint Programme on Rare Diseases (EJP-RD). Dr. Prigione is the current Editor-in-Chief or the journal Stem Cell Research.

Stirling Churchman

Session 2.4 New technological developments and OMICS
Stirling Churchman, Ph.D. is an associate professor in the Department of Genetics at Harvard Medical School. Dr. Churchman is interested in how gene regulation is coordinated across the cell, from the nucleus to the mitochondria. Dr. Churchman obtained her doctorate in physics from Stanford University . She did her postdoctoral training with Jonathan Weissman at University of California, San Francisco. Dr. Churchman has received a number of awards, including the Dale F. Frey Award for Breakthrough Scientists by the Damon Runyon Cancer Research Foundation, a Burroughs Wellcome Fund Career Award at the Scientific Interface and the Glenn Award for Research in Biological Mechanisms of Aging.

Hauke Hillen

Session 2.4 New technological developments and OMICS

Hauke Hillen is a professor at the University Medical Center Göttingen and a Research Group Leader at the Max-Planck-Institute for Multidisciplinary Sciences in Göttingen, Germany.

Hauke studied biochemistry at the University of Tübingen, Germany and then did his PhD with Patrick Cramer at Ludwigs Maximilians University in Munich, Germany. In 2018 he became a Project Leader at the Max-Planck-Institute for Biophysical Chemistry in Göttingen. In 2020 he started his own independent research group at the University Medical Center Göttingen and the Max-Planck-Institute for Multidisciplinary Sciences.

Hauke’s research is aimed at unravelling the molecular mechanisms underlying gene expression in human mitochondria, and how defects in this process lead to diseases. His lab combines cutting-edge structural biology methods such as cryo-electron microscopy with biochemical, biophysical and cellular techniques. Using this integrated approach, Hauke and his team have been able to obtain detailed molecular insights into mitochondrial transcription, RNA processing and other steps of mitochondrial gene expression.

Tuesday June 13th, 2023

Stefano Pluchino

Session 3.1 Inflammation and Immunity as mitochondrial contributor to pathology
Stefano Pluchino is Professor of Regenerative Neuroimmunology and Honorary Consultant at the University of Cambridge since 2010. He obtained his MD and PhD at the University of Siena (Italy) and progressed to two consecutive post doctorate appointments at the San Raffaele Scientific Institute in Milan, Italy.
His research over the last 20 years has recalibrated the classical view that cellular grafts only function through structural cell replacement and opened a new therapeutic avenue by which to use exogenously delivered stem cells, or even stem cell-derived acellular therapies that include extracellular vesicles and exosomes.
His main goal is to develop experimental molecular medicines, including those with stem cells and gene therapy vectors, to slow down the accumulation of irreversible disabilities and improve functional recovery after progressive multiple sclerosis.
He has published over 250 papers – including some breakthrough articles in Nature, Cell Stem Cell and Molecular Cell – and is internationally recognised as a leader and pioneer in the field of Regenerative Neuroimmunology. His publications have to date received >16.000 citations (ISI-WOK), having a Hirsch Factor of 57.
He is the recipient of several international awards, such as the 2003 European Charcot Foundation (ECF) Award, the 2006 Serono Foundation Multiple Sclerosis Award, the 2007 Rita Levi-Montalcini Award, and the 2010 European Research Council (ERC) Consolidator Award.
He was the recipient of the 2007 Rita Levi-Montalcini award (FISM), the 2009 Italian Ministry of Health Young Investigator Award and the 2010 International Royan Award for outstanding research in Stem Cell Biology and Technology.

Maria Mittelbrunn

Session 3.1 Inflammation and Immunity as mitochondrial contributor to pathology

MARIA MITTELBRUNN is the Head of Immunometabolism & Inflammation lab at Molecular Biology Center “Severo Ochoa” (Madrid, Spain) since year 2017. Her current team is composed by 4 postdocs, 4 PhD students and one technician. Her research goal is to identify new strategies to targeting immune cells for boosting systemic resilience to inflammaging, cellular senescence and age-related multimorbidity. She has obtained funding from the major European and Spanish funding organizations, including European Research Council Starting Grant in 2016, and  Consolidator Grant in 2022.

Overall, her scientific work consists in more than 60 articles that account for 14.000 citations in total, with an h-index of 43.

Veronique Paquis-Flucklinger

Session 3.2 Mitochondrial mechanisms in neurodegeneration and neurodevelopment
Véronique Paquis-Flucklinger leads a national reference center, expert in the diagnosis and management of patients with mitochondrial diseases, in the Medical Genetics Department of the Nice Universitary Hospital. She also leads a research team on “Mitochondria, pathologies and aging” at IRCAN, Institute for Research on Cancer and Aging. The aims are to understand the mechanisms at the origin of mitochondrial diseases using mouse and cell models (fibroblasts, iPSCs…) to reduce diagnostic and therapeutic deadlocks. Another research axis aims at analyzing the role of mitochondrial dysfunctions in neurodegenerative diseases (amyotrophic lateral sclerosis, frontotemporal dementia) and aging.

Lena Burbulla

Session 3.2 Mitochondrial mechanisms in neurodegeneration and neurodevelopment
Lena Burbulla serves as Heisenberg Professor for Metabolic Biochemistry of Neurodegenerative Diseases at the Biomedical Center, LMU Munich, since July 2021. She originally comes from Munich, studied Biology at LMU Munich and pursued her PhD at the Hertie Institute for Clinical Brain Research, at University of Tuebingen.
She spent the past 9 years as postdoctoral research fellow and Research Assistant Professor at Harvard Medical School in Boston, and Northwestern University in Chicago, where she conducted compelling research on pathologic mechanisms in Parkinson’s disease and Neurodegeneration with Brain Iron Accumulation (NBIA) disorders. Her lab is interested in the interactions between dopamine, iron, and mitochondrial oxidant stress with a focus on dysfunctional dopamine metabolism, and how this contributes to the selective loss of dopaminergic neurons in the midbrain.

Aleksandra Trifunovic

Session 3.3 Metabolic stress responses in mitochondrial diseases and cancer

Laura Greaves

Session 3.3 Metabolic stress responses in mitochondrial diseases and cancer

Laura Greaves is a Principle Investigator and Senior Lecturer in the Wellcome Centre for Mitochondrial Research at Newcastle University. She obtained her PhD at Newcastle University studying the role of mitochondrial DNA mutations in colorectal stem cell ageing in 2005, before completing her post-doctoral studies utilising mitochondrial DNA mutations as lineage tracing marks in stem cell populations. She established her own laboratory in 2016 where her team is now focused on understanding the role of age-associated mitochondrial dysfunction in intestinal stem cell biology and tumorigenesis. Her lab uses a wide range of experimental approaches, ranging from multi-omic analyses of genetically modified mouse models and organoids to multiplex immunofluorescent analyses of mitochondrial function in large human colorectal cancer cohorts.

Grainne Gorman

Session 3.4 Clinical 2: natural history, biomarkers and outcome measures

Michelangelo Mancuso

Session 3.4 Clinical 2: natural history, biomarkers and outcome measures
Professor Mancuso is the head of the Centre of Neurogenetics and expertise for mitochondrial diseases and rare diseases at the Neurological Clinic of the University Hospital of Pisa (Orphanet Center EUGTIT247621). Mancuso is the Coordinator of the Neurogenetics Group of the Italian Society of Neurology, co-chair of the EAN Coordinating Panel on Rare Neurological Diseases and past-chair of the Neurogenetics Panel of the European Academy of Neurology. The Neurological Institute of Pisa is member of the ERN NMD and of the ERN RND. Recently, Dr Mancuso has been nominated co-chair of the mitochondrial working group of the ERN NMD, and chair of the inter-ERN mitochondrial working group. Scientific and research activity of Professor Michelangelo Mancuso has mainly been conducted in the field of mitochondrial diseases and neurogenetics. As a whole result, his research activity has been presented in national and international congresses and published more than 290 full papers on peer-rewieved Life Science/Current Contents cited scientific journals. According to Scopus, Dr Mancuso’s articles have more than 15000 citations, and the H-Index is 49. He has edited in 2019 the Springer Book “Diagnosis and Management of Mitochondrial Disorders” (ISBN 978-3-030-05516-5)

Wednesday June 14th, 2023

Nils-Göran Larsson

Session 4.1: Therapy 1: preclinical developments

My longstanding interest in mitochondrial biology started in 1987 when I met patients with mitochondrial disease during my medical training in pediatrics. After a period as HHMI Physician Postdoctoral Fellow at Stanford University, I returned to Sweden in 1997 to pursue my own research focused on mouse models to study the in vivo role of mtDNA in physiology and disease pathophysiology. During 2008-2015, I was Director and started the new Max Planck Institute for Biology of Ageing in Germany. Since 2016, I work full time at Karolinska Institutet (KI) in Sweden. The basic scientific approach I have taken has identified novel and unexpected mechanisms relevant for manipulating mitochondrial function to treat human disease and has also lead to the foundation of Pretzel Therapeutics Inc. (www.pretzeltx.com),which develops drugs to manipulate mitochondrial function in human disease.

Carlo Viscomi

Session 4.1: Therapy 1: preclinical developments

Nancy Newman

Session 4.2: Therapy 2: clinical trials
Dr. Nancy J. Newman holds the LeoDelle Jolley Chair of Ophthalmology, and is Professor of Ophthalmology and Neurology and Instructor in Neurological Surgery at the Emory University School of Medicine, where she serves as the Director of Neuro-Ophthalmology. She attended Princeton University, the University of London on a Marshall Scholarship, and Harvard Medical School. She trained in Internal Medicine and Neurology at the Massachusetts General Hospital where she was Chief Resident in Neurology, and in Neuro-Ophthalmology at the Massachusetts Eye and Ear Infirmary. She is a Fellow of the American Academy of Neurology, the American Neurological Association, and the North American Neuro-Ophthalmology Society. She was President of the North American Neuro-Ophthalmology Society from 2014 to 2016, Chair of the Board of Directors from 2016 to 2018, and has since been Senior Vice President for Education. She has served on the Editorial Boards of the American Journal of Ophthalmology, Seminars in Neurology, Journal of the Neurological Sciences and the Journal of Neuro-Ophthalmology. She has over 600 publications, including scientific articles, book chapters and books, including the primary textbook in Neuro-Ophthalmology, Walsh & Hoyt’s Clinical Neuro-Ophthalmology, 5th and 6th Editions, and the popular manual Neuro-Ophthalmology Illustrated, 1st, 2nd and 3rd Editions. She has received many teaching and service awards nationally. She has lectured widely throughout the world and is known for her innovative teaching style. Her main research interests include disorders of the optic nerve and mitochondrial diseases. She is a Trustee Emerita of the Board of Trustees of Princeton University and also served as President of the Princeton University Alumni Association.

Michio Hirano

Session 4.2: Therapy 2: clinical trials

Mary Herbert

Session 4.3: Therapy 3: reproductive options and mtDNA editing

Michal Minczuk

Session 4.3: Therapy 3: reproductive options and mtDNA editing

Michal obtained a Master’s degree in Biotechnology and PhD in Biological Sciences from the University of Warsaw, Poland, carrying out research in the Institute of Genetics and Biotechnology. From 2004–2007 he was an FEBS Postdoctoral Fellow in the group of Prof. Sir Aaron Klug at Medical Research Council (MRC), Laboratory of Molecular Biology, Cambridge. Then he joined the MRC Mitochondrial Biology Unit as an Investigator Scientist (2007) and in 2009 he became a MRC Investigator and Programme Leader. Michal's work is focused on discovering the genetic links between mitochondrial dysfunction and human disease, through mitochondrial genome engineering and studying mitochondrial gene regulation. His laboratory has made important contributions to the development of methods for genetic modification of the mitochondrial genome and to establishing the genetic basis and molecular mechanisms of mitochondrial genetic disorders resulting from defects of mitochondrial gene regulation. Throughout his career Michal has received numerous awards and personal fellowships, including the Prime Minister Prize for his PhD thesis, Award of the Foundation for Polish Science, EMBO and FEBS Fellowships, served as an editor of several journals and books and organised a number of scientific conferences. More recently, Michal has co-founded Pretzel Therapeutics, a start-up biotechnology company that focuses on the development of therapies to treat unmet needs in diseases driven by mitochondrial dysfunction.

Thursday June 15th, 2023

Carlos Moraes

Key-note lecture

The Moraes Lab at the University of Miami was established in 1993 and in the last three decades has been studying the pathobiology of mitochondrial diseases. The Lab has developed several mouse models of mitochondrial defects and used them to explore the role of nuclear and mtDNA mutations in genetic diseases, neurodegeneration and aging. More recently, the Lab has focused on developing gene editing platforms to eliminate mutant mtDNA in vivo.

Anu Suomalainen

Closing lecture
Anu Suomalainen, MD PhD, is Academy Professor of Clinical Molecular Medicine in the University of Helsinki and Chief Physician in the University Helsinki Hospital. She heads her translational Mitochondrial Medicine research group in University of Helsinki, Faculty of Medicine. The group focuses on molecular pathophysiology, metabolic reprogramming, stress responses and mechanisms of tissue-specificity in mitochondrial and degenerative disorders, and uses molecular knowledge to develop tailored treatments.