Gene Editing in the Treatment of SAVI Syndrome

Matthew Porteus, Department of Pediatrics, Stanford University
Sébastien Viel, University of Lyon I, Lyon

SAVI (Sting Associated Vasculopathy with Onset in Infancy) is a rare and an incurable disorder, with an early age of onset. It is caused by mutations in the STING gene, which is responsible for recognizing invading pathogens. Constitutively active STING, the hallmark of this disease, leads to chronic inflammation in the absence of infections. Currently, there is no definitive therapy for SAVI. The goal of this project is, therefore, to develop an innovative and safe gene therapy approach that is accessible by all SAVI patients. The success of this project relies on an interdisciplinary collaboration between the Center of Definitive and Curative Medicine (CDCM), at Stanford University, United States and the University of Lyon I, France. We will use state-of-the art genome editing technology established in the Laboratory of Dr. Porteus, at Stanford University, with the goal of developing a one-time universal curative treatment for SAVI patients.

Academic Year
2021-2022
Area of Study