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Investigators

Headshot of Dr. Benedict Albensi

Benedict C. Albensi, PhD, BCMAS, CRQM

Benedict C. Albensi, PhD, BCMAS, CRQM

Professor and Chair of the Department of Pharmaceutical Sciences NSU Florida

Dr. Benedict C. Albensi, Ph.D., BCMAS, CRQM is a Professor and Chair of the Department of Pharmaceutical Sciences. He is best known for his work with factors involved in ageing, cognition, and Alzheimer’s disease (AD), such as nuclear factor kappa B (NF-kB), a mediator of inflammation, but also a required molecule for memory. He obtained…Read more…

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Richard D. Boles wearing a dark suit with purple necktie and shirt, with a tree in the background

Richard D. Boles, MD

Richard D. Boles, MD

Medical Geneticist NeurAbilities Healthcare

Dr. Richard G. Boles is a medical geneticist and a pediatrician who specializes in mitochondrial medicine, functional disease (including cyclic vomiting syndrome, other atypical forms of migraine, and chronic fatigue syndrome) and autism spectrum disorders. His expertise stems from decades of both clinical work and research at a major academic center as well as from…Read more…

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Headshot of Nav Chandel wearing a white collared shirt and a dark blazer

Nav Chandel, PhD

Nav Chandel, PhD

Professor of Medicine, Biochemistry and Molecular Genetics

Navdeep S. Chandel (Nav) is the David W. Cugell Distinguished Professor of Medicine, Biochemistry, and Molecular Genetics at Northwestern University. He was born in London (UK) and at the age of 1 moved to the town of Shimla (India) located in Himalayan mountains in part due to the rising anti-immigration sentiment in the UK at that…Read more…

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Headshot of Professor Patrick Chinnery FRCP FMedSci, wearing a suit in front of window blinds

Patrick Chinnery, PhD, FRCP, FMedSci

Patrick Chinnery, PhD, FRCP, FMedSci

Professor of Neurology and Head of the Department of Clinical Neurosciences University of Cambridge

I am interested in the genetic basis of neurological disorders, and particularly mitochondrial diseases. Mitochondria are the main source of energy within neurons and glia. Mutations in genes responsible for mitochondrial biogenesis are a major cause of human disease, affecting multiple organs including the brain. My laboratory research programme is based in the MRC Mitochondrial…Read more…

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Headshot of Bruce H. Cohen, MD, FAAN

Bruce H. Cohen, MD, FAAN

Bruce H. Cohen, MD, FAAN

Director, NeuroDevelopmental Science Center Akron Children's Hospital

Dr. Cohen is a pediatric neurologist and chair of the NeuroDevelopmental Science Center at Akron Children’s Hospital. He received his medical degree from the Albert Einstein College of Medicine and completed a pediatric residency at Children’s Hospital of Philadelphia, a pediatric neurology residency at Columbia-Presbyterian Medical Center and a pediatric neuro-oncology fellowship at Children’s Hospital…Read more…

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Joshua Coon, PhD

Joshua Coon, PhD

Professor of Chemistry and Biomolecular Chemistry and Director, NIGMS National Center for Quantitative Biology of Complex System UW-Madison

I grew up in rural Michigan and during these formative years greatly enjoyed flyfishing and woodworking. Putting the latter interest to practical use, I constructed several riverboats (for fishing) while in high school and college. Chemistry interested me, especially Analytical Chemistry, as it offered an avenue to continue “building”. Not boats, but chemical instrumentation. To…Read more…

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Headshot of Andrew Dillin

Andrew Dillin, PhD

Andrew Dillin, PhD

Howard Hughes Medical Institute Investigator, Professor of Immunology and Molecular Medicine, and Co-Director of the Robinson Life Science and Business Entrepreneurship Program University of California, Berkeley

Our lab focuses on the questions of why an aging organism begins to lose control over the integrity of its proteome, and how this loss is communicated across its various tissues. To accomplish this, we have taken the approach of breaking down a cell into its small and canonically-autonomous parts – its suborganelles and subcompartments…Read more…

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Portrait of Antonietta Franco

Antonietta Franco, PhD

Antonietta Franco, PhD

Instructor in Medicine Washington University School of Medicine in St. Louis

Dr. Franco started her scientific carrier in Naples, (Italy). During her Ph.D training, her studies focused on G-Protein-Coupled receptor (GRK2) and its role in cardiovascular disease, whose molecular complexity and mechanistic implications in heart failure are well demonstrated and documented. She is a very dynamic and curious scientist. She has always explored new scientific fields…Read more…

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Headshot of Christian Frezza

Christian Frezza, PhD

Christian Frezza, PhD

Professor of Metabolomics in Ageing University of Cologne

Prof. Dr. Frezza’s group seeks to understand the contribution of dysregulated metabolism to aging-associated disorders, in particular focusing on cancer. A part of the lab investigates how the loss of the mitochondrial enzyme and tumour suppressor Fumarate Hydratase causes renal cancer. Our work has multiple implications: (1) it will provide a mechanistic understanding of the…Read more…

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Headshot of Renata C. Gallagher, MD, PhD

Renata Gallagher, MD, PhD

Renata Gallagher, MD, PhD

Director, Biochemical Genetic Medicine and Professor Emeritus, Pediatrics Benioff Children's Hospital, University of California, San Francisco

Dr. Renata C. Gallagher is a doctor who specializes in genetics. She cares for children and adults with rare disorders that affect important biochemical pathways in the body, including those that help make energy, recycle body components and facilitate communication between nerve cells in the brain. Her expertise includes blood tests given at birth as…Read more…

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Headshot of Jaya Ganesh, MD

Jaya Ganesh, MD

Jaya Ganesh, MD

Associate Professor of Genetics and Genomics, Pediatrics The Mount Sinai Hospital

Dr. Jaya Ganesh is an Associate Professor in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. She is the Interim Program Director of the Medical Residency training program. Her clinical and research interests are Inborn Errors of Metabolism including Lysosomal Storage Diseases and Mitochondrial diseases. She is…Read more…

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Headshot of Carol Lynn Greene, MD

Carol Lynn Greene, MD

Carol Lynn Greene, MD

Professor of Pediatrics University of Maryland School of Medicine

A geneticist, Dr. Greene specializes in clinical genetics and genomics. She has particular interests in inborn errors of metabolism (rare genetic condition in which the body cannot properly turn food into energy), newborn screening and public policy. Dr. Greene is director of the genetic teams providing clinical genetic services (including general genetics services, combined services…Read more…

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Portrait of Lawrence Grossman

Lawrence Grossman, PhD

Lawrence Grossman, PhD

Director, Center for Molecular Medicine and Genetics, Henry L. Brasza Professor of Molecular Medicine and Genetics, Professor of Internal Medicine Wayne State School of Medicine

We work on mitochondrial molecular genetics. Mitochondria are semi-autonomous organelles because they have their own DNA and genetic machinery but must cooperate with the nucleus to function. Mitochondria contain about 1500 proteins, most nucleus encoded, and carry out a number of functions, most centrally to provide most of the energy in the cell. So important…Read more…

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Headshot of Michio Hirano, MD, wearing a white coat and light blue shirt

Michio Hirano, MD

Michio Hirano, MD

Chief, Division of Neuromuscular Disorders, Director, H. Houston Merritt Clinical Research Center, Medical Director, Laboratory of Molecular Genetics/Laboratory of Metabolic and Mitochondrial Disease, Lucy G. Moses Professor of Neurology Columbia University Irving Medical Center

Dr. Hirano received his B.A. from Harvard College and M.D. from the Albert Einstein College of Medicine. At the Columbia University Medical Center (CUMC), he did his neurology residency training and a post-doctoral fellowship in neuromuscular genetics under Drs. Salvatore DiMauro and Eric Schon. Currently, Dr. Hirano serves as Chief of the Neuromuscular Division, Co-Director…Read more…

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Professor David James wearing a royal blue sweater over a light blue collared shirt

David James, PhD, FAA

David James, PhD, FAA

Leonard P. Ullmann Chair of Metabolic Systems Biology & ARC Laureate Fellow Charles Perkins Centre, School of Life & Environmental Sciences and School of Medical Sciences The University of Sydney

David James was awarded a PhD in 1985 in Physiology and Biochemistry from UNSW. During this period, together with colleagues at the Garvan Institute, he developed novel methodologies for studying in vivo glucose metabolism in small animals leading to a number of important discoveries about the role of tissue specificity of insulin action at the whole body…Read more…

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Headshot of Amel Karaa, MD, wearing a black coat and white collared shirt

Amel Karaa, MD

Amel Karaa, MD

Director, Lysosomal Disorders Program and Mitochondrial Disease Program, Assistant Professor of Pediatrics, Harvard Medical School Massachusetts General Hospital

Amel Karaa, MD is a Board-certified internist and medical geneticist, who dedicated her professional life to treating patients with complex medical conditions by providing excellent clinical care, and therapeutics opportunities for those with mitochondrial and lysosomal disorders. She has established a specialized program evaluating hundreds of national and international patients. Dr. Karaa is the 2013 United mitochondrial disease foundation…Read more…

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Amanda Klein

Amanda Klein, PharmD, CDCES

Amanda Klein, PharmD, CDCES

Executive Director for the Transplant Therapeutics Consortium Critical Path Institute

Amanda Klein, PharmD, serves as the Executive Director for the Critical Path for Alpha-1 Antitrypsin Deficiency (CPA-1) and the Critical Path for Lysosomal Diseases (CPLD) at the Critical Path Institute (C-Path). In her role, Dr. Klein leads pre-competitive collaboration among stakeholders aimed at accelerating the drug development process and addressing unmet needs prioritized within the…Read more…

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Headshot of Nick Lane

Nick Lane, PhD

Nick Lane, PhD

Professor of Evolutionary Biochemistry Genetics, Evolution & Environment, Division of Biosciences University College London

Nick Lane is Professor of Evolutionary Biochemistry at UCL. He was a founding member of the UCL Consortium for Mitochondrial Research and is Co-Director of the UCL Centre for Life’s Origins and Evolution. His research is about how energy flow has shaped evolution from the origin of life to the emergence of complex traits such…Read more…

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Prof. Nils-Göran Larsson in a library

Nils-Göran Larsson, MD, PhD

Nils-Göran Larsson, MD, PhD

Professor of Mitochondrial Genetics Karolinska Institute

My interest in mitochondrial biology started in 1987 when I began my PhD studies of pathogenic mtDNA mutations causing mitochondrial disease in humans. I decided to get proper training in biochemistry and mouse genetics and went to Stanford University as a HHMI Physician Postdoctoral Fellow in 1994. When I returned to Sweden in 1997, I…Read more…

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Heidi McBride wearing a dark pink sweater

Heidi McBride, PhD

Heidi McBride, PhD

Canada Research Chair in Mitochondrial Cell Biology, Professor McGill University

As a member of a multidisciplinary team, Heidi McBride contributes her expertise in the cell biology of mitochondrial dysfunction to the complex pathogenesis of motor neuron and other degenerative diseases. Her laboratory uses various complementary approaches to try to understand why hundreds of mitochondria inside each cell behave as an interconnected group, and what this…Read more…

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Portrait of James McCully

James McCully, PhD

James McCully, PhD

Associate Professor of Surgery Boston Children's Hospital, Harvard Medical School

Dr. McCully’s research focuses on the mechanisms and subcellular localization of the biochemical and molecular events contributing to myocardial cell death. In particular, his lab has investigated the discriminant and/or coordinate mechanisms leading to ischemia/reperfusion injury in the neonate, child, mature and aged male and female with particular emphasis on the development of novel and…Read more…

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Portrait of Michael Minczuk

Michael Minczuk, PhD

Michael Minczuk, PhD

Professor of Mitochondrial Genetics University of Cambridge

Michal obtained a Master’s degree in Biotechnology (1999) and PhD in Biological Sciences (2003) 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 Aaron Klug at Medical Research Council (MRC), Laboratory of Molecular Biology, Cambridge. Michal…Read more…

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Headshot of Vamsi Mootha wearing a light colored collared shirt and a dark blazer.

Vamsi K. Mootha, MD

Vamsi K. Mootha, MD

Investigator Howard Hughes Medical Institute, Professor of Medicine and Systems Biology Harvard Medical School

Vamsi Mootha is an Investigator of the Howard Hughes Medical Institute and a Professor of Systems Biology and of Medicine at Harvard Medical School. His laboratory is based in the Department of Molecular Biology and Center for Genome Medicine at Massachusetts General Hospital. Dr. Mootha leads a research team dedicated to mitochondrial biology. Dr. Mootha…Read more…

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Headshot of Mike Murphy FMedSci in a laboratory.

Mike Murphy, PhD

Mike Murphy, PhD

MRC Investigator, Wellcome Trust Investigator, and Professor of Mitochondrial Redox Biology University of Cambridge

Mike Murphy received his BA in chemistry at Trinity College, Dublin in 1984 and his PhD in Biochemistry at Cambridge University in 1987.  After stints in the USA, Zimbabwe, and Ireland he took up a faculty position in the Biochemistry Department at the University of Otago, Dunedin, New Zealand in 1992. In 2001 he moved to…Read more…

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David J. Pagliarini, PhD

David J. Pagliarini, PhD

Hugo F. & Ina C. Urbauer Professor and BJC Investigator Departments of Cell Biology & Physiology, Biochemistry and Molecular Biophysics, and Genetics Washington University School of Medicine in St. Louis

Dave Pagliarini is a BJC Investigator and the Hugo F. and Ina C. Urbauer Professor of Cell Biology & Physiology, Biochemistry & Molecular Biophysics, and Genetics at Washington University School of Medicine in St. Louis, and is a member of the McDonnell Genome Institute Leadership Council. After graduating with honors in biochemistry from the University…Read more…

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Shamima Rahman

Shamima Rahman, PhD, FRCP, FRCPCH

Shamima Rahman, PhD, FRCP, FRCPCH

Professor of Paediatric Metabolic Medicine UCL Great Ormond Street Institute of Child Health

Professor Shamima Rahman is Professor of Paediatric Metabolic Medicine at the UCL Great Ormond Street Institute of Child Health and honorary Consultant at Great Ormond Street Hospital for Children, London. Professor Rahman trained in Medicine at Oxford University, in Paediatrics at the Royal Hospital for Sick Children in Bristol and John Radcliffe Hospital in Oxford,…Read more…

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Jared Rutter, PhD

Jared Rutter, PhD

Investigator of the Howard Hughes Medical Institute, Dee Glen and Ida Smith Endowed Chair for Cancer Research, Distinguished Professor of Biochemistry University of Utah

Jared Rutter, PhD, is a professor in the Department of Biochemistry at the University of Utah and a member of the Nuclear Control of Cell Growth and Differentiation Program at Huntsman Cancer Institute. Rutter studies how cells sense and detect energy needs for growth. Understanding the energy-sensing pathways in cells is important in cancer research…Read more…

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Dylan Ryan

Dylan Ryan

University of Cambridge

I obtained a Bachelor of science (BSc) degree in Biochemistry (2015) from the School of Biomolecular and Biomedical Science (SBBS) in University College Dublin (UCD). Following my degree, I completed a PhD in Immunology (2019) from The University of Dublin, Trinity College (TCD), carrying out research on inflammatory macrophage metabolism in the lab of Prof.…Read more…

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Headshot of Gerald Shadel wearing a maroon collared shirt and a gray blazer

Gerald Shadel, PhD

Gerald Shadel, PhD

Director, San Diego-Nathan Shock Center of Excellence in the Basic Biology of Aging, Audrey Geisel Chair in Biomedical Science, Professor Molecular and Cell Biology Salk Instutute

Gerald Shadel studies the basic biology of mitochondria and mtDNA, and, in doing so, has identified novel ways that mitochondria contribute to disease, aging and the immunesystem. He is also interested in understanding how mitochondria are involved in cellular signaling processes. He seeks to identify what the signals are, what pathways they trigger and how…Read more…

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Headshot of Orian Shirihai wearing a dark shirt

Orian Shirihai, MD, PhD

Orian Shirihai, MD, PhD

Director of the UCLA Metabolism Research Theme, Professor of Medicine, Professor of Molecular and Medical Pharmacology University of California, Los Angeles

Our laboratory is studying organellar biology with a focus on mitochondria, lysosomes and autophagosomes in the context of obesity and diabetes. In the past fifteen years the lab has focused on the study of the roles of mitochondrial dynamics in quality control, fuel preferences and energy expenditure. The lab is known for the development of…Read more…

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Keshav K. Singh wearing a dark suit over a light blue shirt, with greenery in the background

Keshav Singh, PhD

Keshav Singh, PhD

Joy and Bill Harbert Endowed Chair and Director of Cancer Genetics Program, Professor of Genetics, Pathology and Environmental Health Heersink School of Medicine, the University of Alabama at Birmingham

Keshav K. Singh is one of the global leaders in the field of mitochondria research and medicine. He is the Joy and Bill Harbert Endowed Chair, Professor of Genetics, Pathology and Environmental Health and the Director of the Cancer Genetics Program at the University of Alabama at Birmingham (UAB).

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David Thorburn, PhD

David Thorburn, PhD

Co-Group Leader of Brain & Mitochondrial Research, Honorary Professorial Fellow in the Department of Paediatrics at the University of Melbourne Murcdoch Children's Research Institute

Professor David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children’s Research Institute and an Honorary Professorial Fellow in the Department of Paediatrics at the University of Melbourne. He is also a National Health & Medical Research Council Principal Research Fellow and leads the Victorian Clinical Genetics Services Mitochondrial Diagnostic Laboratory.…Read more…

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Aleksandra Trifunovic wearing a dark teal shirt and a white blazer

Aleksandra Trifunovic, PhD

Aleksandra Trifunovic, PhD

Professor at the Medical Faculty University of Cologne

Prof. Dr. Aleksandra Trifunovic and her research group are investigating mitochondrial stress responses and the cell’s corresponding adaptive reactions. By deciphering the signaling cascades, they are seeking to understand the pathomechanisms of mitochondrial diseases and develop new therapeutic approaches. The group has recently started collaborating with Khondrion, one of the first European companies aiming to…Read more…

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Hilary Joyce Vernon, MD, PhD

Hilary Joyce Vernon, MD, PhD

Associate Professor of Genetic Medicine Johns Hopkins Medicine

Dr. Hilary Vernon is an Associate Professor of pediatrics at the McKusick Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon is an associate professor of genetic medicine and a medical biochemical geneticist with expertise in treating inborn errors…Read more…

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Headshot of Doug Wallace wearing a white collared shirt and a tan blazer

Douglas Wallace, PhD

Douglas Wallace, PhD

Director of the Center for Mitochondrial and Epigenomic Medicine at Children's Hospital of Philadelphia, Michael and Charles Barnett Endowed Chair in Pediatric Mitochondrial Medicine and Metabolic Diseases, Professor of Pediatrics Perelman School of Medicine, University of Pennsylvania

More than 35 years ago, Dr. Wallace and his colleagues founded the field of human mitochondrial genetics. The mitochondria are the cellular power plants, organelles that generate most of the cell’s energy. The mitochondria also contain their own DNA, the mitochondrial DNA (mtDNA), which encodes the wiring diagram for the cell’s power plants. Dr. Wallace…Read more…

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Headshot of Anu Suomalainen Wartiovaara wearing a green blouse over a blue shirt

Anu Suomalainen-Wartiovaara, MD, PhD

Anu Suomalainen-Wartiovaara, MD, PhD

Professor of Clinical Molecular Medicine and Academy Professor in Biomedicum Helsinki, University of Helsinki University of Helsinki

Anu Suomalainen is Professor of Clinical Molecular Medicine and Academy Professor in the University of Helsinki. She received her MD PhD degree from University of Helsinki, and has worked as a visiting scientist/ postdoc /visiting professor in Columbia University, Montreal Neurological Institute and UC Berkeley, respectively.  She heads the Mitochondrial Medicine research group in FinMIT Centre…Read more…

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Portrait of Volkmar Weissig wearing a light blue collared shirt with a blue necktie

Volkmar Weissig, Sc.D.., Ph.D.,

Volkmar Weissig, Sc.D.., Ph.D.,

President World Mitochondria Society, Professor of Pharmacology Midwestern University

Volkmar Weissig is a Tenured Professor of Pharmacology and Pharmaceutical Sciences. He has a second non-tenured appointment as Professor of Biomedical Sciences. He received his B.S., M.S. and Ph.D. degrees in Chemistry and his postdoctoral Sc.D. degree (“habilitation”) in Biochemistry and Pharmaceutical Biotechnology from the Martin-Luther University in Halle (Germany). Combined he completed several years…Read more…

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Research Institutes

The Biodesign Center for Bioenergetics focuses on improved diagnosis and treatment for diseases caused by mitochondrial defects. The majority of these diseases are degenerative and affect children and young adults. Characteristics include suboptimal heart and muscle function, speech problems and developmental delays. Dysfunctional mitochondria are associated with Parkinson’s disease, Alzheimer’s disease, amyotrophic lateral sclerosis, ataxias, diabetes and cancer.

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MITO2i’s mission is to advance mitochondria research and innovation. Through our graduate student scholarships, MITO2i is promoting interdisciplinary collaboration to transform and innovate the field of mitochondrial medicine.

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