Understanding how genetic changes affect brain development in Menke-Hennekam syndrome
Official title: Epigenetic mechanisms of disrupted neurodevelopment in Menke-Hennekam syndrome
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-10816703 · Data updated 2026-11-12
This study is looking into how changes in a specific gene called EP300 affect brain development in people with Menke-Hennekam syndrome, with the goal of finding better treatments for those who have it.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | September 15, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $160,500 |
| NIH project number | 1R03NS133727-01A1 |
| Project ID | NIH-10816703 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Menke-Hennekam syndrome or those with related neurodevelopmental disorders.
✕Less likely to help
Patients with unrelated genetic conditions or those without neurodevelopmental disorders may not benefit from this research.
What this research studies
This research investigates the genetic mechanisms behind Menke-Hennekam syndrome, focusing on how specific mutations in the EP300 gene impact brain development and function. By studying these mutations, researchers aim to uncover the role of EP300 in the maturation of cortical neurons, which are crucial for cognitive functions. The project will utilize advanced bioinformatics and cellular models to analyze the effects of these mutations on neuronal behavior and development. This work is essential for developing targeted therapies for individuals affected by this syndrome.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for patients with Menke-Hennekam syndrome and related neurodevelopmental disorders.
How similar studies have gone: Previous research on related genetic mechanisms in other neurodevelopmental disorders has shown promising results, indicating that this approach may yield valuable insights.
Where this research is happening
-
Cincinnati Childrens Hosp Med Ctr
Cincinnati, United States Active
Researchers
- Principal investigator: Potter, Sarah J — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Potter, Sarah J
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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.