How a PACS1 gene change affects brain development in PACS1 syndrome
Identifying pathogenic mechanisms underlying PACS1 Syndrome: implications for neural development
This project looks at how a single PACS1 gene change alters brain cells to help people with PACS1 syndrome and related neurodevelopmental conditions.
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-11370055 on NIH RePORTER |
What this research studies
Researchers use cells from people with PACS1 syndrome and turn them into lab-grown brain cells and 3-D mini-brains to model the condition. They will study how the R203W change in PACS1 affects the protein's roles in the cell, including its movement into the nucleus and effects on chromatin and gene regulation. Patient-derived samples will be compared to healthy controls and combined with other lab models to trace the molecular and cellular steps that go wrong. The team aims to pinpoint biological mechanisms that could guide future therapies.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of PACS1 syndrome—especially those carrying the R203W PACS1 variant—or families willing to donate biological samples would be the most relevant participants.
Not a fit: People whose neurodevelopmental condition is caused by unrelated genetic changes or who need immediate clinical treatments are unlikely to benefit directly from this basic laboratory research.
Why it matters
Potential benefit: If successful, this work could reveal molecular targets that lead to new treatments to improve brain development or symptoms in people with PACS1 syndrome and related disorders.
How similar studies have performed: Using patient-derived cells and 3-D brain organoids has helped clarify mechanisms in several genetic brain disorders, but PACS1-specific biology remains largely novel and less tested.
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.