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Meet The P.I.

Stephanie CherquiDr. Cherqui is Professor in the Department of Pediatrics at UC San Diego and the Director of the UCSD Gene Therapy Initiative. She received her Ph.D. in 2002 from the University Rene Descartes (Paris, France). Her research project focused on the lysosomal storage disorder cystinosis, the identification of the gene involved in this disease, its function, and the generation of a mouse model for cystinosis.

Dr. Cherqui then specialized in stem cells and gene therapy during her post-doctoral internship at The Scripps Research Institute. In 2009, she was appointed as Assistant Professor at The Scripps Research Institute and developed stem cell and gene therapy strategies for the treatment of cystinosis.  

In 2012, she joined the University of California San Diego as an Assistant Professor in the Department of Pediatrics, Division of Genetics and was appointed Associate Professor in 2016, and Professor in 2022. The main focus of her laboratory is the development of stem cells and gene therapy-based therapeutic approaches for genetic disorders.

She established that hematopoietic stem and progenitor cell (HSPC) transplantation could reverse multi-organ degenerative disorders, even in the context of an intracellular membrane protein such as cystinosis. 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 neurodegenerative disorders, Friedreich’s ataxia and Alzheimer’s disease.  

Dr. Cherqui is the Director of the UCSD Gene Therapy Initiative, the Chair of the Cystinosis Stem Cell and Gene Therapy Consortium, and the Chair of the Scientific Review Board of the Cystinosis Research Foundation.She is also a member of the American Society of Gene and Cell Therapy (ASCGT) Gene and Cell Therapy of Genetic and Metabolic Diseases committee, a Scientific Council member for the Cure Cystinosis International Registry (CCIR) and a member of the Cystinosis Research Foundation Board of Trustees. Her research is primarily funded by grants from the National Institutes of Health (NIH), the California Institute of Regenerative Medicine (CIRM), the Cystinosis Research Foundation, and the Friedreich’s Ataxia Research Alliance (FARA).