How ARID1B and related gene regulators shape early brain development linked to autism
Chemical Genetic Dissection of SWI/SNF Chromatin Remodeling Complex Functions in Cerebral Cortex Development
This project looks at how changes in gene regulators like ARID1B affect early brain cell development connected to autism and intellectual disability.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Sloan-Kettering Inst Can Research NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11306678 on NIH RePORTER |
What this research studies
Researchers will use human pluripotent stem cell models to recreate early stages of cerebral cortex development in the lab and mimic mutations seen in ARID1B and other SWI/SNF (BAF) complex genes. They will apply chemical-genetic tools to turn specific gene functions on or off and follow how brain cell types and gene networks change over time. The team aims to map which developmental steps break down when these gene regulators are altered, using methods the lab has recently optimized for reproducible results. Findings are intended to point to molecular pathways that could be targeted in future therapy development.
Who could benefit from this research
Good fit: Ideal participants would be individuals (or their caregivers) with ARID1B-related autism or intellectual disability who can donate cells such as blood or skin for generating pluripotent stem cell models.
Not a fit: Patients without ARID1B or related BAF complex mutations, or those seeking immediate clinical treatments, are unlikely to receive direct benefit from this laboratory-focused project.
Why it matters
Potential benefit: If successful, this work could identify molecular targets and biological pathways that guide the development of future treatments for children with ARID1B-related autism or intellectual disability.
How similar studies have performed: Genetic studies have already linked ARID1B and other BAF subunits to autism, but applying human stem-cell chemical-genetic approaches to map exact developmental mechanisms is a newer and less-tested strategy.
Where this research is happening
New York, United States
- Sloan-Kettering Inst Can Research — New York, United States (Active)
Researchers
- Principal investigator: Vierbuchen, Thomas S — Sloan-Kettering Inst Can Research
- Study coordinator: Vierbuchen, Thomas S
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.