Stephanie Cherqui is Associate Professor in the Department of Pediatrics, Division of Genetics at the University of California San Diego. The main focus of her lab is the development of stem cell and gene therapy-based therapeutic approaches for genetic disorders, and the understanding of the mechanism of action for hematopoietic stem cell-mediated tissue repair. She established that hematopoietic stem and progenitor cell transplantation could reverse multi-organ degenerative disorders, even in the context of an intracellular membrane protein such as in the case of cystinosis, a lysosomal storage disorder. Her work led to the first in human HSPC gene therapy clinical trial for cystinosis. She is now applying this strategy to other disorders including the neuro-muscular degenerative disease, Friedreich’s ataxia.
Dr. Cherqui received her Ph.D in 2002 at Necker hospital (Paris, France) and was appointed Assistant Professor at The Scripps Research Institute in 2009. She joined UC San Diego in 2012. She is the Chair of the Cystinosis Stem Cell and Gene Therapy Consortium, and former chair of the American Society of Gene and Cell Therapy (ASCGT) Gene and Cell Therapy of Genetic and Metabolic Diseases committee. She is also a member of the Scientific Review Board of the Cystinosis Research Foundation and a Scientific Council member for the Cure Cystinosis International Registry (CCIR).