DOT1L chromatin regulator and neurodevelopmental disorders
Official title: The role of chromatin regulators in neurodevelopmental disorders
Funded at University of Pennsylvania · NIH-11386595 · Data updated 2026-11-12
A study to understand how changes in the DOT1L chromatin regulator affect brain development and contribute to neurodevelopmental disorders in people.
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 | 2026 |
| Award (this year) | $543,616 |
| NIH project number | 5R01NS134755-03 |
| Project ID | NIH-11386595 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with neurodevelopmental disorders associated with chromatin regulator mutations, especially those affecting DOT1L.
✕Less likely to help
Individuals without DOT1L-related mutations or neurodevelopmental conditions may not benefit directly.
What this research studies
This project investigates how the DOT1L enzyme, which adds methyl groups to histones, influences neuronal growth and brain gene activity. By studying human-derived neuronal models and animal systems, the team will map how DOT1L mutations seen in patients alter gene expression and neuronal function. The goal is to uncover mechanisms linking DOT1L loss of function to intellectual disability and developmental delays, which could guide future therapies. The research will combine molecular biology, brain-relevant cell models, and behavioral observations in animals to connect molecular changes with developmental outcomes.
Why it matters
Potential benefit: Understanding DOT1L’s role could pave the way for targeted approaches to treat or manage certain neurodevelopmental disorders.
How similar studies have gone: Prior studies show DOT1L-related methylation changes influence neuronal genes, supporting this as a promising area.
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.