Scientific Advisory Board
Andrew R. Marks, MD (Chair)
Dr. Marks is Chairman of the Department of Physiology and Cellular Biophysics and The Clyde and Helen Wu Professor of Medicine and Pharmacology at Columbia University in New York City. He is the former Editor-in-Chief of the Journal of Clinical Investigation. He is also a member of the Institute of Medicine. Additional honors include the Established Investigatorship Award and the Basic Research Prize from the American Heart Association, the Distinguished Clinical Scientist Award of the Doris Duke Charitable Foundation, and memberships in the American Society of Clinical Investigation, the American Association of Physicians, the American Academy of Arts and Sciences, and the National Academy of Sciences.
Dr. Marks discovered that “leaky” intracellular calcium release channels (ryanodine receptors) contribute to heart failure and impaired exercise capacity, particularly in muscular dystrophy. His research has provided groundbreaking insight into RYR-1 related diseases for over 25 years, including the cloning of RYR-1 DNA in 1989 and the discovery in 2014 of the high-resolution structure of the RYR-1 receptor.
Based on fixing the “leak” in the ryanodine receptor/calcium release channels, Dr. Marks’s research is in Phase II clinical trials for the treatment of heart failure and cardiac arrhythmias, and is being developed for the treatment of muscular dystrophy. He is the chair of the SAB for Armgo Pharma, Inc., a company he founded in 2006 to develop novel therapeutics for diseases related to the ryanodine receptor, and he is the inventor on six U.S. patents for these new treatments.
Carsten G. Bӧnnemann, MD
Dr. Bönnemann is a pediatric neurologist specializing in neuromuscular disorders and neurogenetics. He is a Senior Investigator in the Neurogenetics Branch and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section at the National Institute of Neurological Disorders and Stroke at the National Institutes of Health in Bethesda.
Dr. Bӧnnemann is also Adjunct Professor of Neurology at University of Pennsylvania and the Children’s Hospital of Philadelphia (CHOP), and he is a member of the Executive Board of the World Muscle Society as well as Co-Editor-in-Chief of the Journal of Neuromuscular Disease. Dr. Bönnemann is an internationally recognized expert in the diagnosis of neuromuscular diseases. His research is dedicated towards understanding the molecular genetics and cell biology of muscular dystrophies and early onset myopathies in order to develop molecular-based treatments. Dr. Bӧnnemann was a Pew Scholar in the Biomedical Sciences and received the Derek-Denny Brown Neurological Scholar Award of the American Neurological Association.
Robert T. Dirksen, PhD
Robert T. Dirksen, PhD is the Lewis Pratt Ross Professor and Chair of Pharmacology and Physiology at the University of Rochester Medical Center. Dr. Dirksen obtained his BS in Biology and Chemistry from the University of Notre Dame, and MS and PhD in Pharmacology from the University of Rochester. Dr. Dirksen is an outstanding scientist who has focused much of his scientific efforts on understanding the underlying defects of skeletal muscle in patients with Myotonic Dystrophy, Malignant Hyperthermia, Central Core Disease, and other RYR-1-related muscle diseases. His particular focus has been on understanding the control of calcium movements in muscle and the complex relationship between altered calcium movements and abnormal muscle function. His work has shown that dysfunction in calcium flow through RyR-1 calcium channels is the underlying cause of muscle weakness in patients with RYR-1 muscle disease.
His work has been funded by the National Institutes of Health and the Muscular Dystrophy Association among others. He has published over 80 original research articles in leading scientific journals in addition to many abstracts, book chapters, and invited lectures. Dr. Dirksen is currently the Past-President of the Society of General Physiologists and serves on the editorial boards of several journals, including the Journal of General Physiology, Skeletal Muscle and Frontiers in Skeletal Muscle Physiology. He was Chair of the 2015 Gordon Research Conference on Muscle: Excitation-Contraction Coupling and has served on several NIH Study Sections related to muscle biology and disease.
James Dowling, MD, PhD
Dr. Dowling is a clinician-scientist who is focused on gene discovery and therapy for childhood muscle diseases. He is a Professor of Neurology at the University of Toronto and a neurologist at the Hospital for Sick Children in Toronto. He is also the inaugural Mogford Campbell Chair in Pediatric Clinical Neuroscience at Toronto's Hospital for Sick Children. In addition, he is a member of the Executive Board of the World Muscle Society and the Vice-Chair of TREAT-NMD.
Dr. Dowling is considered one of the world’s leading experts in RYR-1 muscle disease. His research spans the continuum from new gene discovery to disease pathogenesis in genetically modified organisms. He is also engaged in both targeted and non-biased drug discovery for RYR-1 related myopathies. His laboratory employs both the zebrafish and mouse model systems, along with complementary in vitro analyses. Dr. Dowling is the recipient of numerous NIH and private foundation research grants, and has recently published detailed results of his RYR-1 related research.
Susan Hamilton, PhD
Dr. Hamilton is the Chair of the Department of Molecular Physiology and Biophysics at the Baylor College of Medicine, and also serves as Professor in that department. For over 30 years, she has studied excitation-contraction coupling in skeletal muscle and the molecular mechanisms of human diseases related to E-C coupling. In doing so, she has become one of the world’s leading experts in the mechanisms underlying the disease processes of malignant hyperthermia (MH) and central core disease (CCD), both of which are related to mutations in the RYR-1 gene. This has led to research for possible therapeutic interventions. Her lab created the first mouse model (a knock-in mutation into RyR-1) of malignant hyperthermia and has also created a mouse model of CCD.
Dr. Hamilton has been the senior author on numerous peer-reviewed publications, and her research has been funded continuously by NIH grants.
Dr. Hamilton is the former Senior Vice President and Dean of Research at the Baylor College of Medicine. She is also the recipient of numerous honors, including membership on the Board of Trustees of the Gordon Research Conference. She was also the recipient of the 2010 Mayerson-DiLuzio Award from Tulane University.
Dr. Hamilton is the senior author of a groundbreaking article titled "A chemical chaperone improves muscle function in mice with a RyR1 mutation". The article discusses the potential role of 4-phenylbutyrate (4PBA) as a treatment in improving muscle function in mice carrying the 14895T mutation in RyR1. To read this article, please click HERE.
Livija Medne, MS, CGC
Ms. Medne is a senior genetic counselor in the Divisions of Human Genetics and Neurology and a co-director of the Roberts Individualized Medical Genetics Center (RIMGC) at The Children’s Hospital of Philadelphia. For the last 15 years, she has specialized in neuromuscular and neurogenetic disorders and served as a CHOP co-investigator for several clinical research trials and patient registries. As a genetic counselor, her goal is to facilitate accurate and genetically confirmed diagnosis for all children with suspected neuromuscular disorders and other diagnoses. More recently, she has developed expertise in large-scale genomic testing and played a critical role in developing the RIMGC program at CHOP to allow for incorporation of genomic testing into clinical practice. With increasing number of testing options and modalities, it is critically important that each and every individual gets access to the right test at the right time. Mrs. Medne has developed significant expertise in interpreting genetic testing results for neuromuscular disorders, including RYR1-related myopathies. While many genetic neuromuscular diagnoses still lack targeted therapies, they can be notably better managed and treated when the exact molecular diagnosis is known.
Sheila Riazi, MSc, MD, FRCPC
Dr. Riazi is an Associate Professor at the Department of Anesthesia, and Adjunct Professor at the Department of Kinesiology at University of Toronto, and a staff anesthesiologist at University Health Network (Toronto Western Hospital). Dr. Riazi also directs the only Canadian diagnostic center for malignant hyperthermia (MH), where she assesses at-risk individuals and provides genetic testing and caffeine-halothane contracture test (CHCT). Her research interests include pathophysiology of MH, links with exertional heat illnesses, and phenotypic variability in MH susceptible patients.
Dr. Riazi has received several teaching and research awards and had secured funding from Canadian and American grant agencies. She is also a member of the MH International Professional Advisory Council, the board of directors of MH Association of the United States (MHAUS), and a member of the editorial board at the Canadian Journal of Anesthesia.
Susan Treves, PhD
The main focus of Dr. Treves's laboratory at the University of Basel (Switzerland) is to study intracellular calcium homeostasis in mammalian cells under normal and pathological conditions, with particular emphasis on skeletal muscle excitation-contraction coupling. One of the models she uses to study calcium dysregulation in skeletal muscle is unique to her laboratory since they use biopsy-derived human skeletal muscle cells differentiated into myotubes in vitro. As a result of her PhD work in the laboratory of Prof. Tullio Pozzan, one of the pioneers in the development of fluorescent Ca2+ indicators, she has a broad understanding on the use, pitfalls, and advantages of the available methods to study calcium homeostasis with fluorescent calcium indicators. This expertise coupled with access to patient material has allowed her laboratory to directly assess the effect of mutations in the human ryanodine receptor calcium channel in muscles obtained from patients affected by neuromuscular disorders. Her laboratory applies a broad range of techniques, including cell and tissue culture, molecular biology, cell biology, biochemistry, microscopy and imaging, and fluorescence measurements of intracellular [Ca2+].
Filip Van Petegem, PhD
Dr. Van Petegem is Professor at the University of British Columbia (UBC), Department of Biochemistry and Molecular Biology (Vancouver, Canada). Born in Belgium, he obtained his PhD in Biochemistry at Ghent University in 2002 and performed postdoctoral studies at the University of California San Francisco (UCSF).
Dr. Van Petegem leads a research lab at UBC, where he studies the structure and function of ion channels, with a focus on cardiac and skeletal muscle. This includes the Ryanodine Receptor (RyR) and voltage-gated calcium channels (CaV), two types of ion channels that have intimate communications inside muscle cells. Mutations in the genes that encode these channels cause malignant hyperthermia, central core disease, cardiac arrhythmia, and much more. A major approach consists of determining very detailed 3D structures of these channels, allowing his lab to peer into the direct effects of the disease mutations on the structure.
Dr. Van Petegem has received New Investigator Awards from the CIHR (2008) and the Michael Smith Foundation for Health Research (2008) as well as a UBC Faculty of Medicine Award for excellence in basic science (2013). He received a new investigator award from the Canadian Society for Molecular Biosciences (CSMB) in 2016, and a Killam Research Fellowship in 2017. He serves on the Macromolecular Beam team committee at the Canadian Light Source and frequently consults with industry.
Nicol C. Voermans, MD, PhD
Dr. Voermans research at the Radboud University Medical Centre (The Netherlands) focuses around genotype-phenotype coupling and trial-readiness of rare inherited myopathies. As a clinical neurologist trained in neuromyology and experienced in translational research, she is well prepared to bridge the gap between the neuromuscular bench and bedside. Her passion for supporting patients with rare genetic disorders and her enthusiasm for interdisciplinary work is what drove her to this research field.
Dr. Voermans has focused on congenital myopathies, with a special interest in the clinical presentations and pathophysiology of RYR1-related myopathies. In 2014, Dr. Voermans gained experience in functional analysis of the RYR-1 channel in the lab of Dr. Susan Treves in Switzerland. Dr. Voermans has focussed on the wide spectrum of RYR1-related myopathies throughout life, including intermittent phenotypes such as exertional rhabdomyolysis. She is a medical advisor of the congenital myopathies group of the Dutch patient organization for neuromuscular disorders.
Recently, Dr. Voermans has extended her scope to include other congenital myopathies (centronuclear myopathies, nemaline myopathies, and SEPN1-related myopathies) and facioscapulohumeral muscular dystrophy (FSHD). Her research in these myopathies has increased the knowledge of geno-and phenotypes, natural history and outcome measures, all of which are crucial for future trials.
Consultant to the Scientific Advisory Board
Se-Jin Lee, MD, PhD
Dr. Lee is The Michael and Ann Hankin and Partners of Brown Advisors Professor in Scientific Innovation, and he is a Professor in the Department of Molecular Biology and Genetics at the Johns Hopkins University School of Medicine in Baltimore.
Dr. Lee is responsible for the discovery of Myostatin, a protein that inhibits muscle growth. His research proved that certain mutations in the myostatin gene can lead to a widespread increase in skeletal muscle mass. Based on this work, he developed a myostatin deficient strain of mice with abnormally large muscle mass, dubbed the “mighty mice.” This work laid the foundation for the development of potential myostatin-inhibiting drugs for a wide range of muscle wasting conditions, including muscular dystrophies, AIDS, cancer, and normal aging.
Dr. Lee received his undergraduate degree in biochemistry from Harvard College (summa cum laude). He earned his M.D. and Ph.D. in molecular biology and genetics from the Johns Hopkins University School of Medicine under the mentorship of Nobel Prize Laureate Dr. Daniel Nathans.
He is a member of the Medical Advisory Committee of the Muscular Dystrophy Association. He became a member of the National Academy of Sciences in 2012 and was elected a fellow of the American Association for the Advancement of Science in 2010. He was the recipient of the Rolf Luft Prize from the Karolinska Institutet. Dr. Lee has more than 50 U.S. patents issued on his work.