Understanding PACS1 Syndrome to help brain development
Official title: Identifying pathogenic mechanisms underlying PACS1 Syndrome: implications for neural development
Funded at Northwestern University · NIH-11562670 · Data updated 2026-11-12
Researchers are studying how a specific PACS1 gene change affects brain development in people with neurodevelopmental differences, with the goal of guiding future therapies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | August 5, 2022 |
| Project end | July 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $91,014 |
| NIH project number | 3R01NS123163-05S1 |
| Project ID | NIH-11562670 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with PACS1 syndrome or related neurodevelopmental disorders may be relevant for future studies and translation.
✕Less likely to help
People without PACS1-related conditions or without a potential for future therapy development may not benefit directly.
What this research studies
This grant focuses on how changes in the PACS1 protein influence brain development and contribute to conditions like autism and bipolar symptoms. Using patient-derived cells and advanced models, the team will map nuclear roles of PACS1 and how the R203W variant disrupts development. The work aims to identify molecular targets that could be used to develop disease-modifying treatments for PACS1-related neurodevelopmental differences. Results could also inform broader understanding of brain development in related conditions.
Why it matters
Potential benefit: If successful, findings could point to new targets for therapies that improve cognitive and developmental outcomes for patients with PACS1-related disorders.
How similar studies have gone: There is ongoing research linking PACS1 to brain development, but the specific nuclear roles and R203W effects are still being explored, making this approach relatively novel.
Where this research is happening
-
Northwestern University
Chicago, United States Active
Researchers
- Principal investigator: Guemez Gamboa, Alicia Dione — Northwestern University
- 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.