Department of Bioengineering and Therapeutic Sciences Professor Nadav Ahituv, PhD, is pushing the boundaries of how gene-editing tools can be used to treat rare and devastating childhood disorders. Building on his pioneering work with CRISPRa — a modified version of CRISPR that activates, rather than edits, genes — Ahituv and colleagues have now shown that dialing up the activity of a single healthy gene can restore brain function in a model of SCN2A haploinsufficiency, a genetic condition linked to epilepsy, autism, and severe developmental delays. 

In collaboration with Professor Kevin Bender, PhD, of the UCSF Weill Institute for Neurosciences, Ahituv’s team used CRISPRa to boost production of the SCN2A protein in mice carrying the same mutation seen in children with the disorder. Remarkably, the intervention reactivated neural connections, restored normal brain signaling, and prevented seizures — even when delivered at a stage equivalent to late childhood in humans. 

The findings, published in Nature, highlight both the therapeutic potential of CRISPRa and the translational impact of UCSF research. For Ahituv, who first demonstrated the power of this approach by treating obesity-related genetic deficiencies in mice, the study underscores how precision tools developed in the lab can evolve into promising therapies for patients. With a licensing agreement in place to explore clinical applications, this work marks an important step toward bringing hope to families affected by SCN2A-related disorders.

Read the complete story: Can CRISPR Fix a Childhood Brain Disorder?