How DOT1L, a gene-control protein, affects brain development and learning
The role of chromatin regulators in neurodevelopmental disorders
This project looks at how changes in DOT1L, a protein that controls gene activity, could cause neurodevelopmental disorders such as intellectual disability and developmental delay in children.
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 ID | NIH-11146570 on NIH RePORTER |
What this research studies
You might be interested because researchers will study DOT1L mutations found in people with developmental delays by using cells and animal models to see what goes wrong in developing neurons. They will measure a specific chemical mark on histones (H3K79me) that DOT1L makes, check how that changes which genes are turned on, and examine effects on synapses and neuron function. The team will compare patient-linked mutations to normal DOT1L activity to understand whether and how partial loss of DOT1L disrupts brain development. The methods include molecular lab work, genetic models, and analysis of gene expression and neuronal behavior to link mutations with functional outcomes.
Who could benefit from this research
Good fit: People (often children) with neurodevelopmental disorders—especially those with intellectual disability or developmental delay and known or suspected DOT1L or related chromatin-regulator mutations—would be the most relevant candidates for involvement or future trials.
Not a fit: Patients whose conditions are unrelated to chromatin regulators or DOT1L, or who need immediate clinical treatment, are unlikely to receive direct benefit from this basic-science-focused project.
Why it matters
Potential benefit: If successful, this work could identify biological targets and pathways that lead to new diagnostic tests or future therapies for some neurodevelopmental disorders.
How similar studies have performed: Prior research linking chromatin-regulating genes to developmental disorders has provided important biological insights, but translating those findings into proven treatments is still early and experimental.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Korb, Erica Megan — University of Pennsylvania
- Study coordinator: Korb, Erica Megan
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.