About the Lab
The main focus of the laboratory is the development of stem cell and gene therapy-based therapeutic approaches for metabolic and neurologic disorders, and the understanding of the mechanism of action for hematopoietic stem cell-mediated tissue repair.
Meet the PI
Dr. Cherqui is a professor at the University of California San Diego, Department of Pediatrics. She received her Ph.D in 2002 at Necker hospital (Paris, France); her research project focused on the molecular characterization of cystinosis, a metabolic hereditary disease, as well as the generation of mouse models. She then specialized in stem cells and gene therapy during her post-doctoral internship at The Scripps Research Institute where she was appointed Assistant Professor in 2009. In 2012, Dr. Cherqui joined the University of California, San Diego, Department of Pediatrics, Division of Genetics, became an Associate Professor in 2016, and Professor in 2022.
News
UCSD Scientists Report Early Success With Cystinosis Gene Therapy in First-in-Human Trial
Reporting early clinical results of a first-of-its-kind hematopoietic stem cell–based gene therapy for cystinosis, a rare inherited lysosomal storage disorder. In a Phase I/II trial at the University of California, San Diego, the investigational therapy demonstrated sustained reductions in cystine levels and stable organ function in most adult patients with advanced disease, supporting continued development and ongoing evaluation in pediatric patients.
California Grants $7.4 Million to Advance Gene-Edited Stem Cell Therapy for Friedreich’s Ataxia
Advancing a first-of-its-kind stem cell–based gene therapy for Friedreich’s ataxia, a rare inherited neurodegenerative disease. Supported by a $7.4 million award from the California Institute for Regenerative Medicine, the team is completing the final safety, manufacturing, and regulatory steps needed to launch a first-in-human clinical trial.
RARE Magazine - Women in RARE Edition
The Women in RARE edition highlights the women involved with working on rare diseases. Dr. Cherqui was interviewed about her journey in gene therapy, leading to the culmination of the Gene Therapy Initiative.
UC San Diego Launches Gene Therapy Initiative, Targeting Treatments for Rare Diseases
Thanks to a $5 million gift from the Nancy and Geoffrey Stack Foundation, the University of California San Diego has launched the Gene Therapy Initiative with directors Stephanie Cherqui and Alysson Muotri.
Novartis Deal Boosts CIRM Approach
The therapy was sold for $87.5 million by Avrobio, Inc., of Cambridge, Ma., to Novartis AG, a $52-billion-a-year firm based in Switzerland. The treatment was developed by Stephanie Cherqui of UC San Diego.
Beaker List - Top 23 Female Academic Entrepreneurs
In honor of International Women's Day 2023, BIOS community have put together the "Top 23 Women in Academic Entrepreneurship" that have changed the life sciences ecosystem.
Scientists Receive $4.8M to Pursue Gene Therapy for 'Incurable' Disease
CIRM grant will fund novel gene therapy aiming for one-time, lifelong treatment of Friedreich’s ataxia, a progressive neuromuscular disorder; second CIRM grant will advance efforts to leverage UC San Diego research on another rare disease.
Stephanie Cherqui and Natalie's Wish: Finding a Gene Therapy for Cystinosis
The story of what has driven UC San Diego's Stephanie Cherqui to develop a gene therapy for Cystinosis, a devastating inherited condition.
Side Effects May Include … A Completely New Hair Color?
An experimental therapy helped patients with a rare disease feel better. It also led to an accidental makeover.
Best Life: Experimental treatment for cycstnosis
The Department of Pediatrics is excited to share this news clip that highlights Dr. Stephanie Cherqui’s experimental gene therapy approach to treating cystinosis. Stem cells taken from patient’s peripheral blood were re-engineered to produce functional cystinosin, the protein defective in cystinosis. The patient was then reinfused with his own cystinosin-producing cells.
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