Investigating how a specific protein affects brain function and developmental disorders in children
Official title: The Role of H3K79 Methylation and Dot1L in Neuronal Function and Neurodevelopmental Disorders
Funded at University of Pennsylvania · NIH-10934334 · Data updated 2026-11-12
This study is looking at a protein called Dot1L in the brain to see how it might affect conditions like autism and developmental delays, using a special mouse model to learn more about how it influences brain development and function.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2023 |
| Project end | September 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $36,651 |
| NIH project number | 5F31NS129242-02 |
| Project ID | NIH-10934334 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who are diagnosed with autism spectrum disorder or other neurodevelopmental disorders.
✕Less likely to help
Patients who are older than 11 years or do not have neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding the role of a protein called Dot1L in the brain and its impact on neurodevelopmental disorders such as autism and developmental delays. The researchers will study how changes in Dot1L affect gene expression in neurons, particularly genes related to synaptic function. By using a special mouse model, they aim to uncover the mechanisms by which Dot1L influences brain development and function, which could lead to new insights into these disorders.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for neurodevelopmental disorders in children.
How similar studies have gone: Previous research has shown that understanding chromatin regulators like Dot1L can provide valuable insights into neurodevelopmental disorders, indicating a promising avenue for this investigation.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Maroni, Marissa — University of Pennsylvania
- Study coordinator: Maroni, Marissa
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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.