Scientific & Medical Advisory Board
Bruce Cohen, MD • Chair
Dr. Cohen is the Director of The NeuroDevelopmental Science Center and the Interim Medical Director and VP of the Rebecca D. Considine Research Institute at Akron Children’s Hospital. He also is Professor of Pediatrics and Professor of Integrated Medical Sciences at Northeast Ohio Medical University. He received his AB in Chemistry at Washington University, his MD at Albert Einstein College of Medicine, and trained in Pediatrics at Children’s Hospital of Philadelphia (CHOP) and Child Neurology at The Neurological Institute in New York.
His interest in mitochondrial medicine began as an intern in pediatrics and has continued for over 35 years. He established a busy mitochondrial medicine practice and currently is involved with several clinical trials for the treatment of mitochondrial diseases. Dr. Cohen served as President of The Mitochondrial Medicine Society, spent nine years as a Trustee of the United Mitochondrial Disease Foundation (UMDF), before rejoining in 2010, three years as Secretary of the UMDF Scientific and Medical Advisory Board, and has chaired and co-chaired 15 of the UMDF annual scientific symposiums.
Dr. Cohen lives in Ohio with his wife Anna and their two children. He also has two grown children making their way through advanced educational degrees.
Gino Cortopassi, PhD
Dr. Gino Cortopassi joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Cortopassi is a molecular biologist at UC Davis School of Veterinary Medicine. His lab studies inherited mitochondrial genetic disease in terms of pathophysiological mechanism and potential therapeutics. His research foci are mitochondrial neurodegenerative diseases, Friedreich’s Ataxia, LHON, and Leigh’s Syndrome. Dr. Cortopassi’s lab uses mitochondrial disease cell models to screen for drugs with therapeutic potential, and then test them for benefit in mouse models of mitochondrial disease, and has identified 3 classes of drugs that may provide benefit in mitochondrial disease, including bioactive fumarates, Shc blockers, and mTORC1 inhibitors.
Marni Falk, MD
Dr. Marni Falk joined the UMDF Scientific and Medical Advisory Board (SMAB) in 2011. Dr. Falk chaired the SMAB in 2013 and 2014, and from 2016-2019.
Dr. Falk is Executive Director of the Mitochondrial Medicine Frontier Program at The Children’s Hospital of Philadelphia (CHOP) and Professor in the Division of Human Genetics, Department of Pediatrics at University of Pennsylvania Perelman School of Medicine. Dr. Falk received her B.S. in Biology graduating Summa cum Laude and Phi Beta Kappa, as well as M.D. in the Alpha Omega Alpha Medical Honor Society from a 7-year program at the George Washington University School of Medicine. She completed dual specialty training in a 5-year Pediatrics and Clinical Genetics residency program at Case Western Reserve University. The focus of her work is to improve clinical care, diagnostic approaches, therapies, and genomic resources for mitochondrial disease, including organization of a global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium.
Dr. Falk is Principle Investigator of an NIH, pharma, and philanthropic funded translational research laboratory group at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction, and directs multiple clinical treatment trials in mitochondrial disease patients. She has authored more than 115 publications in the areas of human genetics and mitochondrial disease, and is the Editor of Mitochondrial Disease Genes Compendium. Dr. Falk directs the CHOP/UPENN Mitochondria Research Affinity Group that has 275 participants. She also serves as a member of the Scientific and Medical Advisory Board and member of The United Mitochondrial Disease Foundation; founding member of the CHOP Center for Mitochondrial and Epigenomic Medicine; CHOP-site PI of the North American Mitochondrial Disease Consortium; member of the Mitochondrial Medicine Society, Society for Pediatric Research, Society for Inherited Metabolic Disease, American Society of Human Genetics, and American College of Medical Genetics and Genomics; and elected member of the University of Pennsylvania John Morgan Society, Interurban Clinical Club, and American Society of Clinical Investigators.
Ralitza Gavrilova, MD
Dr. Gavrilova joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Gavrilova is an Associate Professor in the Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN. She established and leads the Mitochondrial Care Center at Mayo Clinic as well as the Neurogenetics Clinic, where she sees patients of all ages with a variety of neurogenetic disorders and has a particular interest in mitochondrial diseases.
Her training includes neurology residency at University of Missouri, Columbia; and fellowship in Neurology and Medical Genetics at Mayo Medical School in Rochester, MN. Dr. Gavrilova is board certified in Medical Genetics and Neurology.
Dr. Gavrilova is Practice Chair of the Department of Clinical Genomics, Mayo Clinic; Site Director for the North American Disease Consortium; Board Member of the Mitochondrial Medicine Society; Steering Committee Member and Site Director of the Mitochondrial Care Network; and Director of the Mitochondrial Care Center at Mayo Clinic.
Richard Haas, MD
Dr. Richard Haas joined the UMDF Scientific and Medical Advisory Board (SMAB) in 2012.
Dr. Richard Haas is director of the Neurometabolic Clinic at Rady Children’s Hospital-San Diego and director of the Mitochondrial Disease Laboratory and a professor at UC San Diego School of Medicine.
After earning his medical degree from the University of Cambridge UK, he completed residencies in internal medicine, neurology and pediatrics at the University of London, followed by a fellowship in pediatric neurology at the University of Colorado and an NIH Fellowship in the Biochemistry of Intellectual Disability.
Dr. Haas’s clinical interests include neurometabolic disease, general child neurology, Rett Syndrome, neuromuscular disease and neonatal neurology. In 1994, he established what is now the Mitochondrial and Metabolic Disease Center and laboratory at UC San Diego as a facility dedicated to the research and clinical evaluation of mitochondrial disorders. His attempt to merge research and patient care has been a hallmark of his career and has created a referral base of both domestic and international patients.
He works primarily as a child neurologist with a particular focus on mitochondrial and metabolic disease. He also runs the UCSD adult neurometabolic clinic where adults with suspected mitochondrial disease are typically seen. For 38 years he has trained genetics, pediatrics and Neurology fellows. A focus is on the diagnosis of mitochondrial disease and he deals with these diagnostic problems on a daily basis as the director of the UCSD Mitochondrial Disease Laboratory and co-director of the UCSD Mitochondrial and Metabolic Disease Center (MMDC). He is on the Scientific Advisory Board of the United Mitochondrial Disease Foundation (UMDF) and the UMDF Clinical Trials Committee. As the director of the North American Mitochondrial Disease Consortium (NAMDC) Fellowship training program he has supervised the training of six NAMDC mitochondrial fellows and all six trainees have continued to work actively in the field of academic mitochondrial medicine with an impressive collection of peer reviewed publications.
In recent years, clinical trials for rare diseases has become a major clinical research activity. He also has run a clinical trial consortium on neonatal seizure treatment. The NAMDC fellowship training program has a focus on clinical trials and currently Dr. Haas is UCSD PI on eight clinical trials four of which are on mitochondrial disease therapies.
He serves on the editorial board of the Journal ‘Mitochondrion’ and reviews metabolic articles for a number of scientific journals. He has published over 96 Peer reviewed original scientific articles.
Michio Hirano, MD
Dr. Hirano joined the UMDF Scientific and Medical Advisory Board in April 2020. He was previously a member of the SMAB from 2009–2013.
Dr. Hirano received his A.B. from Harvard College and M.D. from the Albert Einstein College of Medicine. At the Columbia University Irving Medical Center (CUIMC), he completed neurology residency and a post-doctoral fellowship in neuromuscular genetics under Drs. Salvatore DiMauro and Eric Schon.
Currently, Dr. Hirano serves as Chief of the Neuromuscular Medicine Division, Director of the CUIMC Muscular Dystrophy Association Care Center, and Director of the H. Houston Merritt Neuromuscular Research Center. He evaluates patients with mitochondrial diseases, genetic myopathies and other neuromuscular disorders.
For more than 25 years, Dr. Hirano’s translational research focused on mitochondrial disease and inherited myopathies. His laboratory has identified causative genes for multiple diseases including Mitochondrial NeuroGastrointestinal Encephalomyopathy (MNGIE) and coenzyme Q10 deficiencies. To understand how some of these mutant genes cause diseases, the laboratory has been investigating in vitro and mouse models. He has been developing therapies for mitochondrial diseases including deoxynucleoside treatment for thymidine kinase 2 deficiency, which is currently being assessed in clinical trials. He has also participated in industry sponsored clinical studies. Together with Dr. J.L.P (Seamus) Thompson, Dr. Hirano is Principal Investigator of the NIH-funded North American Mitochondrial Disease Consortium (NAMDC).
Dr. Hirano has served on the NIH study sections, Research Advisory Committee (RAC) of the Muscular Dystrophy Association, and Scientific Advisory Boards of the United Mitochondrial Disease Foundation and Barth Syndrome Foundation.
Amel Karaa, MD
Dr. Amel Karaa joined the Scientific and Medical Advisory Board (SMAB) in 2016. Dr. Karaa is an assistant professor and director of the mitochondrial disease program at the Massachusetts General Hospital in Boston (The Mito Clinic). She received an international baccalaureate in biology and chemistry (magna cum laude) from the Franzoesiches Gymnasium in Berlin and a medical degree (summa cum laude) from the Universite de Medicine et Pharmacie de Tunis in Tunisia. She has also completed her internal medicine residency and clinical genetic and metabolism fellowship through the genetics program at Harvard University and is board-certified as an internist and clinical geneticist.
Dr. Karaa was the recipient of the 2013 United Mitochondrial Disease Foundation (UMDF) Fellowship and is currently overseeing clinical care for pediatric and adult mitochondrial disease patients and conducting clinical research and clinical trials for mitochondrial disease. She was elected president of the Mitochondrial Medicine Society in June of 2018 and sits on the scientific and medical board of the Mitochondrial Disease Action Committee (MitoAction) and the UMDF.
Dr. Karaa is also a founder and a board member of the Mitochondrial Care Network (MCN), a US-wide network developing expert centers for mitochondrial medicine and a site investigator for the North American Mitochondrial Disease Consortium (NAMDC). She is committed to be an advocate for her mitochondrial disease patients and their families, to educate health care providers in recognizing and treating mitochondrial patients within the community and to be a catalyst for bringing a much-needed cure to our patients with mitochondrial disease.
Rustum Karanjia, MD, PhD
Dr. Rustum Karanjia joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Karanjia is a Neuro-ophthalmologist at the University of Ottawa Eye Institute. Having completed his medical training and PhD in Canada, he completed a fellowship in Neuro-ophthalmology at UCLA. He is actively involved in clinical trials and is a board member for the International Foundation on Optic Nerve Disease and LHON Canada.
Dr. Karanjia obtained both his Doctorates in Philosophy and Medicine from Queen’s University and completed his residency in Ophthalmology at the University of Ottawa. He is currently an Assistant Professor and Vice-Chair (Research) at the University of Ottawa.
Brett Kaufman, PhD
Dr. Brett Kaufman joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Kaufman’s long-standing research interest is to understand the contribution of mtDNA metabolism to disease progression. For 20 years he has been uncovering the fundamental processes that underlie mitochondrial respiratory deficiency with a focus on mtDNA stability and copy number control – processes essential for respiratory function and viability. Dr. Kaufman’s major research goals are 1) to define the biochemical events responsible for the maintenance of mtDNA content, 2) to understand mechanisms of mtDNA damage and resistance to damage in the context of disease, including cell-free mtDNA signaling, and 3) therapeutic approaches to mtDNA mutation and instability. Multiple organ systems are involved, giving a lot of flexibility to models and diseases of interest. Outside of his primary research goals, Brett focuses on providing a strong mentoring environment that highlights individual’s development and identification of strengths. He also collaborates extensively to help diverse research projects understand whether mtDNA-related defects are association with disease.
Carla Koehler, PhD
Dr. Koehler joined the SMAB in 2013. She has been a faculty member in the Department of Chemistry and Biochemistry at UCLA since 1999. She came to UCLA after doing post-doctoral research in the laboratory of Dr Gottfried Schatz at the Biozentrum, Basel, Switzerland. Her research characterized a new protein import pathway in the mitochondrion and linked a defect in protein import with the inherited disease deafness-dystonia syndrome. Dr. Koehler completed her graduate studies at Iowa State University, characterizing the inheritance of mitochondrial DNA during her M.S. studies and studying dimorphism in Saccharomyces cerevisiae.
Research in the Carla Koehler lab focuses on basic mechanisms in protein and RNA trafficking in mitochondria with an emphasis on developing new small molecule probes to study these pathways in model organisms including cultured cells and zebrafish. These probes are utilized for understanding how defects in mitochondrial dysfunction contributes to disease.
Austin Larson, MD
Dr. Austin Larson joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Larson attended medical school at Brown University and had his pediatric residency, medical genetics residency and biochemical genetics fellowship at the University of Colorado. He spent a year as the fellow for the North American Mitochondrial Disease Consortium as part of his training. He is currently on the faculty at the University of Colorado and primarily practices at Children’s Hospital Colorado. He is the director of the local Mitochondrial Care Network Clinic.
In addition to care for patients with mitochondrial disease, Dr. Larson’s interests include telemedicine, clinical trials for rare diseases, novel gene discovery and application of diagnostic genomic technologies to clinical care. Dr. Larson is also the director for the University of Colorado Medical Genetics and Genomics residency program and is active in medical education within the medical school and graduate schools at the University of Colorado.
Peter McGuire, MD
Dr. Peter McGuire joined the UMDF Scientific and Advisory Board (SMAB) in July 2020.
Dr. McGuire received his bachelor’s in psychology from Villanova University, a master’s in microbiology and immunology from New York Medical College, and an M.B.B.Ch. (with honors, and equivalent with an M.D.) from the Royal College of Surgeons in Ireland. After completing a combined residency in pediatrics and medical genetics at Mount Sinai Medical Center, he was awarded a fellowship in biochemical genetics from the American College of Medical Genetics and Genzyme. After completing his training, he remained as a junior faculty member in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics.
In 2010, Dr. McGuire moved to the National Institutes of Health (NIH) to join the Physician Scientist Development Program to accelerate his translational research program. He was appointed to the position of tenure track Investigator in 2016. Throughout his career, Dr. McGuire has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his training in immunology and biochemical genetics, he fashioned a translational research program to understand the interplay between mitochondrial metabolism and the immune system.
His NIH Clinical Center protocol, the NIH MINI Study, is the first organized effort to study immune function in patients with disorders of mitochondrial metabolism, which aims to demonstrate that these patients can be informative regarding the role of mitochondria in immune cell function.
Jodi Nunnari, PhD
Dr. Jodi Nunnari joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Nunnari is a cell biologist and pioneer in the field of mitochondrial biology. She is currently a distinguished professor and the Chair of the Department of Molecular and Cellular Biology at the University of California, Davis while also serving as the editor-in-chief of The Journal of Cell Biology. She studied chemistry at the College of Wooster before obtaining a Ph.D. in pharmacology from Vanderbilt University, working with Lee Limbird. As a postdoctoral fellow with Peter Walter at the University of California, San Francisco, Nunnari pioneered the use of green fluorescent protein to visualize mitochondria in budding yeast, helping to establish the field of mitochondrial dynamics. Nunnari was named editor-in-chief of The Journal of Cell Biology in August 2015, becoming the first woman to serve in this position. She is a member of the American Society for Cell Biology, and served as the Society’s president in 2018 and on the executive committee for several years. In 2017, Nunnari was elected as a member of the National Academy of Sciences.
Gerard Vockley, MD
Jerry Vockley, MD is chief of the Division of Medical Genetics and a professor of pediatrics and human genetics at University of Pittsburgh Medical Center-Children’s Hospital of Pittsburgh in Pittsburgh, PA. Areas of interest: medical genetics, inborn errors of metabolism & general mitochondrial medicine.
Zuela Zolkipli-Cunningham, MDChB, MRCP
Dr. Zolkipli-Cunningham joined the UMDF Scientific and Medical Advisory Board (SMAB) in July 2020.
Dr. Zolkipli-Cunningham is an Assistant Professor in the CHOP Division of Human Genetics, and Department of Pediatrics, University of Pennsylvania, and Assistant Clinical Director of the Mitochondrial Medicine Frontier Program (MMFP). Dr. Zolkipli-Cunningham is also a UMDF Grantee (2016, 2019) and was the first North American Mitochondrial Disease Consortium (NAMDC) Fellow. She is PI of a Research Program to establish novel methods for quantitation of Mitochondrial Myopathy and for validation of new diagnostic and therapeutic strategies involving nutrition and exercise. She is also a neuromuscular neurologist and mitochondrial disease expert, has expertise in validating the O2 nanosensor prototype in mouse and zebrafish models of mitochondrial disease, and is PI of an NIH U54 NAMDC Pilot Grant to conduct the first in-human O2 nanosensor clinical trial in adults with Mitochondrial Myopathy. Dr. Zolkipli-Cunningham also co-leads an NICHD U24 Leigh syndrome consortium gene-disease curation effort with Dr. Shamima Rahman.