Distinctive Voices—How Rare Disease Research is Transforming Medicine Through Gene Therapy

Research on rare genetic disorders has become a powerful driver of innovation in medicine. Dr. Stephanie Cherqui’s research at UC San Diego pioneered a hematopoietic stem cell gene therapy approach for cystinosis, a multisystem lysosomal disorder, establishing a novel therapeutic paradigm in which gene-corrected stem cells can deliver functional organelles to diseased tissues throughout the body. Early clinical studies have shown encouraging safety and efficacy, validating decades of translational research from bench to bedside. Building on these discoveries, her laboratory has expanded this platform to other rare neurodegenerative and metabolic disorders, including Friedreich’s ataxia and Sanfilippo Type C, while uncovering new roles for hematopoietic stem cell–derived immune cells in tissue repair and neuroprotection. These insights are now informing therapeutic strategies for more common conditions, including Alzheimer’s disease, illustrating how research in rare diseases can catalyze transformative advances across medicine.

Featured Speaker:

Dr. Stephanie Cherqui

Professor of Pediatrics, Division of Genetics

Stephanie Cherqui is a professor in the Department of Pediatrics, Division of Genetics at the University of California San Diego. She is also the director of the UC San Diego Gene Therapy Initiative. Her laboratory centers on two research areas: the development of hematopoietic stem cell gene therapy-based treatments for genetic disorders, and the investigation of the mechanism behind hematopoietic stem cell-mediated tissue repair.