Investigating the role of EZH1 in brain development and disorders
The role of EZH1 in neuronal differentiation and neurological disorders
This study is looking at how changes in the EZH1 gene might impact brain development and lead to intellectual disabilities, using special lab techniques to see how these gene changes affect the growth of brain cells.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11136311 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the EZH1 gene affect brain development and contribute to intellectual disabilities. By studying human embryonic stem cells with specific mutations, researchers aim to observe how these mutations influence the differentiation of neurons. The approach includes using advanced cell culture techniques to create models that mimic human brain development, allowing for a detailed examination of the effects of EZH1 on neuronal growth and function.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with diagnosed intellectual disabilities, particularly those with known EZH1 mutations or related neurodevelopmental disorders.
Not a fit: Patients without intellectual disabilities or those whose conditions are not linked to chromatin modifications may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for children and adults with intellectual disabilities linked to EZH1 mutations.
How similar studies have performed: Previous research has shown promising results in understanding the role of chromatin modifiers in neurodevelopment, suggesting that this approach could yield valuable insights.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Akizu, Naiara — Children's Hosp of Philadelphia
- Study coordinator: Akizu, Naiara
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.