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.

Stephanie Cherqui, UC San Diego

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