Understanding immune regulation in health and disease

Clinical manifestations, immune mechanisms, and curative treatments


The research in Dr. Bacchetta’s lab is focused on genetic autoimmune diseases, from understanding the pathogenesis of genetically determined autoimmunity and improving its diagnostics, to investigating novel cell and gene-editing based therapies to cure these diseases. Specifically, we study how mutations of key immune tolerance genes differentially affect regulatory T cell (Treg) and effector T cell (Teff) functions in the affected patients. To this aim, in addition to in vitro studies, we use humanized mice, repopulated with gene edited human hematopoietic stem cells (HSPCs) or patients HSPCs. Our disease model is IPEX syndrome, due to FOXP3 gene mutation, the prototype pathology of Treg defect, manifesting very early in life. We are currently testing the feasibility and safety of two different gene therapy approaches to cure IPEX patients: one based on LV-mediated conversion of Teff into Treg and the other approach based on gene editing in autologous HSPCs.

The major goal of the team is indeed to facilitate gene correction not only for IPEX syndrome but also for other genetic diseases with immune dysregulation, and provide patients with novel therapeutic options.

Working very closely with the Roncarolo Lab, throughout the innovative high dimensional and single cell technologies available at Stanford, we aim at understanding the cellular and molecular aspects of the altered immune system and how to restore regulation and immure responses.    

Rosa Bacchetta, MD

My professional goal as pediatrician specializing in immunology has been to challenge the limits of "inexplicable" and "untreatable" diseases, and apply current scientific knowledge to understand the mechanisms of impaired cellular immune function underlying the clinical manifestations and to develop curative treatments.

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