Isabelle Marty, PhD

Dr. Isabelle Marty is Research Director at the “Institut National de la Santé et de la Recherche Médicale”, the French NIH. She is currently leading the research team “Cellular Myology and Pathologies” at the Grenoble Institute of Neurosciences, Grenoble, France, and she is co-director of the Grenoble Institute of Neurosciences. She is also part of the “Association Française contre les Myopathies” Scientific council. After a formation in chemistry, she has obtained a PhD in biochemistry. She has been working for more than 30 years in the field of muscle biochemistry and muscle cell biology. Her worked has been focused on calcium release for muscle contraction. She has published more than 80 papers on the calcium release complex and its alterations, both in skeletal and in cardiac muscles. Her research interests are centered on the ryanodine receptor and its associated protein triadin, on the cell biology mechanisms leading to the formation of triad. Her lab, which gathers both basic researchers and geneticists, focuses on the identification of pathophysiological mechanisms resulting of mutation in a protein of the calcium release complex. She is working on the development of therapies for central core disease patients with mutations in the ryanodine receptor gene. Both pharmacological and gene therapy approaches are studied in her team. She has provided recently the first experimental demonstration of benefit of some gene therapies for RYR1 mutations.