How genes and gene switches shape the brain's cortex during development
Genetic Studies of Cortex Structure and Development
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11133047
Researchers are mapping the genes and genetic switches that guide early brain cells to build the cortex to help explain conditions like autism.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11133047 on ClinicalTrials.gov |
What this research studies
This project follows the proteins (transcription factors) and DNA regulatory switches that tell cortical progenitor cells how to form different layers and regions of the cortex. Scientists will profile chromatin and open DNA regions in purified progenitors and developing neurons using modern sequencing methods. They will test candidate regulatory elements in living models to see how they change cortical patterning and layering. The work links genetic variants to how brain circuitry forms, with implications for neurodevelopmental disorders.
Who could benefit from this research
Good fit: People with autism spectrum disorder or related neurodevelopmental conditions could be relevant for future or linked studies that ask for genetic samples or clinical information.
Not a fit: People without neurodevelopmental conditions or those looking for immediate treatment options are unlikely to receive direct clinical benefit from this basic research.
Why it matters
Potential benefit: If successful, the work could clarify how specific genetic changes lead to autism and related conditions and point to new diagnostic markers or future therapeutic targets.
How similar studies have performed: Epigenomic profiling and ATAC-seq have previously identified important regulatory elements in brain tissue, but combining regional/layer profiling with functional testing in models is an advancing and partly novel approach.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: RUBENSTEIN, JOHN L. R. — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: RUBENSTEIN, JOHN L. R.
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.
Conditions: Autistic Disorder