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ASGCT 2021 | CRISPR-Cas9 gene-edited HSPCs for Friedreich’s ataxia

Stephanie Cherqui, PhD, University of California, San Diego, La Jolla, CA, describes a CRISPR-Cas9 gene-edited hematopoietic stem and progenitor cell (HSPC)-based therapy for Friedreich’s ataxia (FRDA), a rare mitochondrial neurodegenerative disorder. The transplantation of wild-type HSPCs into an FRDA mouse model led to the successful prevention of neurodegeneration in the dorsal root ganglia. Given that FRDA is predominantly caused by a GAA repeat expansion mutation within the frataxin gene (FXN), CRISPR-Cas 9 technology was used to excise the GAA expansion mutation from patient-derived HSPCs, resulting in the restoration of frataxin expression. Future research aims to evaluate the clinical potential of this autologous therapy for FRDA. This interview took place during the American Society for Cell & Gene Therapy 24th Annual Meeting 2021.


Stephanie Cherqui is inventor on a patent entitled “Methods of treating mitochondrial disorders” (#20378-201301) and is a cofounder, shareholder and a member of both the Scientific Board and Board of Directors of Stelios Therapeutics Inc. Stephanie Cherqui serves as a consultant for AVROBIO and receives compensation for these services. Stephanie Cherqui also serves as a member of the Scientific Review Board and Board of Trustees of the Cystinosis Research Foundation. The terms of this arrangement have been reviewed and approved by the University of California San Diego in accordance with its conflict of interest policies.