Investigators & Research Institutes

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…

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…

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…

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…

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…

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…

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…

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…

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…

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…

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…

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…

Andrea Gropman, M.D., specializes in neurogenetics, with a focus on mitochondrial disorders and Smith Magenis syndrome.

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…

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…

Erika L F. Holzbaur is an American biologist who is the William Maul Measey Professor of Physiology at University of Pennsylvania Perelman School of Medicine. Her research considers the dynamics of organelle motility along cytoskeleton of cells. She is particularly interested in the molecular mechanisms that underpin neurodegenerative diseases. Holzbaur’s research considers the dynamics of organelle…Read more…

Prof. Ian James Holt is a Ikerbasque Research Professor and Leader of the Mitochondria, Health and Longevity Group at the Biodonostia Health Research Institute, Neurosciences department, San Sebastián, Spain.

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…

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…

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…

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…

Clinical Genetics and Genomics – General, Medical Biochemical Genetics, Pediatrics

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…

Samantha C. Lewis, Ph.D. is a molecular and cell biologist and Assistant Professor at the University of California, Berkeley in the beautiful San Francisco Bay Area. Dr. Lewis’ research investigates how animal cells ensure the continual energy supply they need to survive, and how this goes awry in human disease. Her laboratory team focuses on…Read more…

Professor Rong Li came from Johns Hopkins University where she served as the Director of the Center for Cell Dynamics in the Johns Hopkins School of Medicine. She has had over 25 years of independent research on cellular dynamics and mechanics employing interdisciplinary approaches. She was recruited to NUS in 2019 as the second Director…Read more…

Kay Macleod, PhD, Professor in the Ben May Department of Cancer Research, has been appointed as the Associate Director for Basic Sciences for the University of Chicago Medicine Comprehensive Cancer Center (UCCCC), effective January 15, 2024. Macleod is a basic researcher who uses cutting-edge approaches in cell and molecular biology, systems biology, novel mouse models and human patient samples to ask…Read more…

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…

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…

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…

Divakar S. Mithal, MD, PhD is an Assistant Professor of Pediatrics (Neurology and Epliepsy) at Northwestern University Feinberg School of Medicine (Chicago, USA). Dr. Mithal’s research focuses on the basic mechanisms whereby brain cells regulate their cellular metabolism and his clinical work is centered on managing the care of children with critical neurologic illnesses, including…Read more…

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…

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…

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…

Lena Pernas is challenging the conventional view of the role of mitochondria during infection. Her work has shown that mitochondria counteract invading pathogens, rather than being simply hijacked or damaged by them. Going forward, her team aims to uncover how organelles sense and respond to infections, and how metabolism and organellar function are rewired to defend against…Read more…

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…

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…

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…

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…

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…

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).

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…

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…

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…

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…

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…

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…