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About the Lab

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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

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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.


RARE Magazine - Women in RARE EditionThe 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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