Investigating mutations in specific histone genes linked to rare pediatric disorders
Official title: De novo mutations in replication-independent histone genes and an unexplored class of rare pediatric mendelian syndromes
Funded at University of Pennsylvania · NIH-11081613 · Data updated 2026-11-12
This study is looking at how specific changes in certain genes might cause rare brain development issues in kids, with the hope of finding better ways to diagnose and treat these conditions.
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 | April 1, 2024 |
| Project end | March 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $37,348 |
| NIH project number | 5F30HD112125-02 |
| Project ID | NIH-11081613 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with neurodevelopmental disorders that may be linked to mutations in replication-independent histone genes.
✕Less likely to help
Patients without neurodevelopmental disorders or those not carrying specific histone mutations may not benefit from this research.
What this research studies
This research focuses on understanding how certain mutations in replication-independent histone genes contribute to rare neurodevelopmental disorders in children. By studying these mutations, the researchers aim to uncover the underlying biological mechanisms that lead to these conditions. They will utilize advanced genetic sequencing techniques to analyze patient samples and explore the effects of these mutations on brain development and function. The goal is to identify potential therapeutic targets and improve diagnosis for affected children.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children with rare neurodevelopmental disorders caused by histone mutations.
How similar studies have gone: Other research has shown promising results in understanding the role of histone mutations in neurodevelopmental disorders, indicating that this approach has potential for success.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Lubin, Emily Elizabeth — University of Pennsylvania
- Study coordinator: Lubin, Emily Elizabeth
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.