A CRISPR gene-activation approach to restore sensorimotor function in SCN2A-related autism
CRISPRa-based rescue of sensorimotor deficits in the Scn2a+/- mouse model of autism spectrum disorder
This work will try boosting the remaining SCN2A gene with CRISPRa to restore nerve cell function and improve sensorimotor behavior in a mouse model of SCN2A-related autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11289342 on NIH RePORTER |
What this research studies
This research uses mice that carry only one working copy of the SCN2A gene, which models a common genetic cause of autism. Scientists deliver CRISPRa tools to raise expression of the remaining SCN2A copy during adolescence in the mice. They will measure electrical activity of neurons, synaptic function, sensory processing, and sensorimotor learning across brain areas to see if those measures return toward normal. If the approach works in mice, the results would guide development of gene-activating therapies for people with SCN2A-related autism.
Who could benefit from this research
Good fit: People with autism who have heterozygous loss-of-function (haploinsufficient) variants in SCN2A would be the genetic group most likely to benefit from this approach.
Not a fit: People with autism who do not have SCN2A mutations or whose symptoms arise from different biological causes are unlikely to benefit from this gene-specific approach.
Why it matters
Potential benefit: If successful, this could point to a gene-activating therapy that restores neuronal function and improves sensory and motor symptoms for people with SCN2A haploinsufficiency.
How similar studies have performed: Gene-activating (CRISPRa) approaches are new but early laboratory work, including the investigators' preliminary mouse data, shows restored SCN2A expression and improved cellular function, while clinical benefit in humans remains unproven.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Bender, Kevin J — University of California, San Francisco
- Study coordinator: Bender, Kevin J
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.