Investigating genetic changes in brain tissue related to neurodevelopmental disorders
Official title: Genotype-informed single cell transcriptomic profiling of mosaic brain tissue
Funded at Univ of North Carolina Chapel Hill · NIH-11097377 · Data updated 2026-11-12
This study is looking at how certain genetic changes in brain cells might play a role in conditions like autism, and it's for anyone interested in understanding how these changes affect brain function at a very detailed level.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | June 1, 2024 |
| Project end | April 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $151,785 |
| NIH project number | 5R21NS133873-02 |
| Project ID | NIH-11097377 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with neurodevelopmental disorders, particularly those with conditions like hemimegalencephaly.
✕Less likely to help
Patients without neurodevelopmental disorders or those not affected by genetic variants in brain tissue may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic changes in brain cells contribute to neurodevelopmental and neuropsychiatric conditions. By analyzing mosaic brain tissue, the study aims to identify which cell types carry disease-causing genetic variants and how these variants affect gene expression at the single-cell level. The researchers will utilize advanced single-cell RNA sequencing techniques to explore these changes, providing insights into the underlying mechanisms of conditions like autism. This approach is novel as it combines genotype information with detailed cellular analysis to enhance our understanding of brain disorders.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential new treatments for neurodevelopmental disorders such as autism.
How similar studies have gone: While single-cell genomic approaches have been successful in other diseases, this specific application to mosaic brain tissue and genotype-informed analysis is novel and untested.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Heinzen, Erin L — Univ of North Carolina Chapel Hill
- Study coordinator: Heinzen, Erin L
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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.