Understanding how a genetic variant affects brain development in PACS2 syndrome
Official title: Pathogenic mechanisms of PACS2 syndrome variant in developing neurons
Funded at Northwestern University at Chicago · NIH-11039925 · Data updated 2026-11-12
This study is looking into how a specific gene change in PACS2 syndrome affects brain function, with the hope of finding new treatments to help people with this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $190,395 |
| NIH project number | 5R21NS136889-02 |
| Project ID | NIH-11039925 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with PACS2 syndrome or those who carry the specific genetic variant associated with the condition.
✕Less likely to help
Patients with neurodevelopmental disorders not related to PACS2 syndrome may not benefit from this research.
What this research studies
This research investigates the underlying mechanisms of PACS2 syndrome, a neurodevelopmental disorder that leads to cognitive impairment and other neurological issues. By using patient-derived stem cells and advanced gene-editing techniques, the study aims to explore how a specific genetic variant affects neuronal function and contributes to the symptoms of the syndrome. The goal is to uncover the molecular processes involved, which could pave the way for developing targeted therapies for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve cognitive and neurological outcomes for patients with PACS2 syndrome.
How similar studies have gone: While the specific mechanisms of PACS2 syndrome are relatively unstudied, similar approaches using stem cells and gene editing have shown promise in understanding other neurodevelopmental disorders.
Where this research is happening
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Guemez Gamboa, Alicia Dione — Northwestern University at Chicago
- Study coordinator: Guemez Gamboa, Alicia Dione
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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.