Understanding PACS1 Syndrome and Brain Development
Identifying pathogenic mechanisms underlying PACS1 Syndrome: implications for neural development
This research aims to understand how changes in a protein called PACS1 contribute to brain development issues in conditions like PACS1 Syndrome, autism, and bipolar disorder.
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 ID | NIH-11160540 on NIH RePORTER |
What this research studies
Many brain development conditions are complex, and we don't fully understand their causes. This project focuses on PACS1 Syndrome, a specific condition caused by a single change in the PACS1 protein, which affects over 200 patients. We want to learn how this changed PACS1 protein affects brain cells and their development, especially its role inside the cell's nucleus. By studying patient-derived cells, we hope to uncover the specific problems that lead to the symptoms seen in PACS1 Syndrome and related conditions.
Who could benefit from this research
Good fit: Patients with PACS1 Syndrome, autism, or bipolar disorder, and their families, are the focus of this foundational research.
Not a fit: Patients with conditions unrelated to PACS1 protein function or neurodevelopmental disorders may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this research could reveal the fundamental causes of PACS1 Syndrome and related neurodevelopmental disorders, paving the way for new treatments.
How similar studies have performed: While some PACS1 functions are known, the specific role of the R203W variant in the nervous system and its nuclear function are largely unexplored, making this a novel area of investigation.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Guemez Gamboa, Alicia Dione — Northwestern University
- Study coordinator: Guemez Gamboa, Alicia Dione
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.