Improving brain function in neurodevelopmental disorders using CRISPR technology
Rescue of Cul3 haploinsufficiency phenotypes with CRISPR-mediated Cul3 activation
['FUNDING_R21'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-10672996
This study is exploring a new way to help people with neurodevelopmental disorders caused by certain genetic changes by using a special tool to boost a gene important for brain health, and it's being tested in mice that have similar issues to those seen in humans.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-10672996 on ClinicalTrials.gov |
What this research studies
This research focuses on addressing neurodevelopmental disorders (NDDs) caused by genetic variants that lead to reduced gene expression. By utilizing a specialized form of CRISPR technology called CRISPRa, the study aims to enhance the expression of the Cul3 gene, which is crucial for brain development and function. The research involves testing this approach in a mouse model that mimics the genetic conditions seen in humans, with the goal of reversing cognitive and behavioral deficits associated with Cul3 haploinsufficiency. If successful, this could pave the way for new treatments for individuals affected by NDDs.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with neurodevelopmental disorders linked to genetic variants affecting the Cul3 gene.
Not a fit: Patients with neurodevelopmental disorders not associated with the Cul3 gene or those with other unrelated genetic conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to innovative therapies that improve cognitive and social functioning in patients with neurodevelopmental disorders.
How similar studies have performed: While the use of CRISPR technology in gene therapy is a rapidly evolving field, this specific application targeting Cul3 haploinsufficiency is relatively novel and has not been extensively tested in humans.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: IAKOUCHEVA, LILIA M — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: IAKOUCHEVA, LILIA M
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.