Scientific Advisory Board
Andrew R. Marks, MD (Chair)
Dr. Marks is Professor and Chair of the Department of Physiology and Cellular Biophysics, Professor of Biomedical Engineering and Clyde and Helen Wu Professor of Medicine at Columbia University. He is board certified in Internal Medicine and in Cardiovascular Diseases. He is a member of the National Academy of Sciences, the National Academy of Medicine, a fellow of the American Academy of Arts and Sciences. He received the Basic Research Prize from the American Heart Association, Stanley J. Korsmeyer Award, American Society for Clinical Investigation, Robert J. and Claire Pasarow Foundation Award in CV Research, Glorney-Raisbeck Award, NY Academy of Medicine, Doctor of Science, Honoris causa, Amherst College, Docteur Honoris causa, de l’Université de Montpellier and was Editor-in-Chief of the Journal of Clinical Investigation,
Dr. Marks discovered that “leaky” intracellular calcium release channels (ryanodine receptors) contribute to heart failure and impaired exercise capacity. His research has provided groundbreaking insight into RYR-1 related diseases for over 25 years, including the cloning of RyR-1 gene in 1989 and the discovery in 2014 of the high-resolution structure of the RyR-1 channel.
Based on fixing the “leak” in the ryanodine receptor/calcium release channels, his research has resulted in a new class of drugs, known as Rycals®, now in Phase Ib clinical trials at the NIH for the treatment of RyR1 myopathy. 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 is inventor on over 20 U.S. patents for these new treatments.
He developed the rapamycin drug eluting coronary artery stents, and has served on SABs of Novartis and Centocor and the NHLBI Council. Hedesigned and teaches a course at Columbia entitled “How to Make a Drug”, serves on advisory boards of the Harrington Discovery Institute and Gladstone Foundation (UCSF). He has published over 200 peer reviewed articles. He founded SPURS, a summer research program for minority students that has trained over 200 undergraduates over the past 17 years to improve diversity of the biomedical research pipeline.
Since the start of the COVID-19 pandemic he has co-organized the Columbia COVID-19 virtual symposium which has hosted lectures by investigators from Columbia University and around the world.
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
Dr. Dirksen 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 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, the Muscular Dystrophy Association, and the RYR-1 Foundation among others. He has published over 150 original research articles and reviews in leading scientific journals and has given numerous invited lectures. Dr. Dirksen served tenures as President of the Society of General Physiologists and Chair of the MHAUS Professional Advisory Committee. He currently 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 Paediatrics and Molecular Genetics at the University of Toronto and a staff clinician 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 Chair of the Executive Committee 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 to therapy development. He is 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.
Johanna Lanner, PhD
Dr. Lanner is a preclinical expert in muscle pathophysiology, and her interdisciplinary and translational research program is focused on understanding mechanisms and identifying novel therapeutic interventions to combat muscle dysfunction and weakness. She is an Associate Professor at The Department of Physiology & Pharmacology, Karolinska Institutet, Stockholm, Sweden. Her background includes a master’s degree in chemistry from Stockholm University, Sweden, and a PhD in medical sciences from Karolinska Institutet. She did her postdoc training in Professor Susan Hamilton’s laboratory at Baylor College of Medicine in Houston, Texas, focusing on muscle dysfunction in RYR-1-related disease.
Johanna has conducted research on different signaling pathways in muscles for over a decade and has made significant advances in this field by characterizing novel mechanisms of muscle weakness and linking oxidative stress and altered muscle metabolism to the impaired contractile function of muscle. She has published over 50 original articles and reviews in leading scientific journals and is frequently invited to present her research at acknowledged scientific conferences and congresses. Dr. Lanner is the recipient of national and European grants, and her research team recently identified a mitochondrial protein that potentially can be targeted to improve muscle function in genetic diseases and non-communicable disorders.
Livija Medne, MS, LCGC
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 RYR-1-related diseases. While many genetic neuromuscular diagnoses still lack targeted therapies, they can be notably better managed and treated when the exact molecular diagnosis is known.
Payam Mohassel, MD
Dr. Mohassel is an adult neurologist and neuromuscular specialist at the National Institutes of Health (NIH). After his clinical training at Johns Hopkins University, Dr. Mohassel joined the NIH in 2014 to continue research training in muscle disease with Dr. Carsten Bönnemann, who is also a member of the RYR-1 Foundation’s Scientific Advisory Board. His research focus in neuromuscular neurogenetic disorders spans gene discovery efforts, pre-clinical studies in cellular and animal models, and early-stage clinical trials. As a clinical neurologist trained in myopathies and muscular dystrophies and experienced in translational research, Dr. Mohassel is passionate about bringing new therapies to individuals with muscle disease such as RYR-1-related diseases. Dr. Mohassel is currently the principal investigator of a phase I clinical trial for RYR-1-related diseases (please see www.ryr1.org/rycals for additional details) and was awarded the Young Myologist of the Year award by the World Muscle Society in 2020.
Sheila Riazi, MSc, MD, FRCPC
Dr. Riazi is a Professor at the Department of Anesthesia, clinician-scientist at Toronto General research institute, and a staff anesthesiologist at University Health Network. 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 the 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 the chair of the MH International Professional Advisory Council, the board of directors of the MH Association of the United States (MHAUS), and an associate editor 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 Institute. Dr. Lee has more than 50 U.S. patents issued on his work.