Investigating how chromatin regulators affect brain development and disorders
Official title: The role of chromatin regulators in neurodevelopmental disorders
Funded at University of Pennsylvania · NIH-10981097 · Data updated 2026-11-12
This study is looking at a protein called DOT1L to see how problems with it can affect brain development and lead to conditions that impact how the brain works, especially in people with specific genetic mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $580,045 |
| NIH project number | 1R01NS134755-01A1 |
| Project ID | NIH-10981097 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with neurodevelopmental disorders linked to mutations in chromatin regulators, particularly those affecting DOT1L.
✕Less likely to help
Patients without genetic mutations related to chromatin regulation or those with unrelated neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding the role of a specific protein, DOT1L, in brain development and how its malfunction can lead to neurodevelopmental disorders. By studying the genetic mutations that affect DOT1L, the researchers aim to uncover the mechanisms by which these mutations disrupt normal brain function. The approach involves analyzing how changes in chromatin, the material that packages DNA, influence gene expression critical for neuronal development. Patients with certain genetic mutations may provide insights into the biological processes at play.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for neurodevelopmental disorders by targeting the underlying genetic causes.
How similar studies have gone: Previous research has shown promising results in understanding the role of chromatin regulators in various disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Korb, Erica Megan — University of Pennsylvania
- Study coordinator: Korb, Erica Megan
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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.