Genetic and gene-activity differences in single brain cells of people with autism
Assessing Genomic, Regulatory and Transcriptional Variation at Single Nuclei Resolution in the Brains of Individuals with Autism Spectrum Disorder
This project looks at DNA changes and gene activity in individual brain cells from people with autism to help explain how those differences may shape brain development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10894921 on NIH RePORTER |
What this research studies
Researchers will analyze post-mortem brain tissue from 40 people with autism and 40 unaffected controls obtained through the Autism BrainNet biobank. They will perform whole-genome sequencing to find disruptive genetic variants and apply single-nucleus RNA sequencing and ATAC-seq to measure gene expression and regulatory activity in specific cell types. By combining genetic and single-cell data, the team will link risk variants to the particular brain cells and molecular pathways they affect. The goal is to create a large, detailed cellular map of the molecular changes associated with autism.
Who could benefit from this research
Good fit: Ideal participants are individuals with autism whose families can donate post-mortem brain tissue to the Autism BrainNet biobank.
Not a fit: People seeking immediate treatment changes or living patients will not receive direct clinical benefits from this project in the short term.
Why it matters
Potential benefit: If successful, this work could reveal specific genes, cell types, and regulatory mechanisms involved in autism that point to new diagnostic markers or treatment targets.
How similar studies have performed: Prior post-mortem and early single-cell studies have reported gene-expression and glial changes in autism, but this larger single-nucleus genomic and regulatory approach is newer and more detailed.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Nowakowski, Tomasz — University of California, San Francisco
- Study coordinator: Nowakowski, Tomasz
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.