How human brain cells form and differ in autism
Cell Identity Determination in Human Brain: Somatic Mutation and Cell Lineage
Researchers will use natural DNA 'barcodes' and single-cell RNA testing on human brain tissue to map how different brain cells develop and relate to autism.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11225813 on NIH RePORTER |
What this research studies
This project uses somatic mutations that accumulate during fetal brain development as unique DNA 'barcodes' to trace which cells share a common ancestor. Scientists will combine those lineage marks with single-cell RNA sequencing of postmortem human brain tissue to identify specific neuronal and glial cell types and their developmental relationships. The work focuses on patterns that have been linked to autism and other neurological disorders to understand how abnormal cell lineages might contribute to disease. New methods will be developed to describe clonal dynamics and how cells disperse and diversify across the human brain.
Who could benefit from this research
Good fit: Ideal participants are adults with autism (or their families) who can consent to donate postmortem brain tissue or participate through affiliated brain bank programs.
Not a fit: People looking for immediate symptom-relief treatments or those unable or unwilling to donate tissue are unlikely to receive direct benefit from this basic science work.
Why it matters
Potential benefit: If successful, the work could reveal how developmental mutations and altered cell lineages contribute to autism and point to new diagnostic markers or targets for future therapies.
How similar studies have performed: Prior studies have shown somatic mutations can act as lineage barcodes and single-cell RNA can define cell types, so this project builds on promising but still developing methods.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Walsh, Christopher a. — Boston Children's Hospital
- Study coordinator: Walsh, Christopher a.
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.