Understanding how certain gene expressions affect cell function in developmental disorders
Official title: Elucidating the mechanisms by which ectopically expressed genes and piRNAs perturb somatic cell function when histone methylation is inappropriately regulated
Funded at Kennesaw State University · NIH-10730632 · Data updated 2026-11-12
This study is looking at how certain genes and changes in DNA packaging might cause Kabuki-like syndrome, a condition that affects development, by using tiny worms to see how these changes lead to problems in growth and cell function, with the hope of finding ways to help.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Kennesaw State University NIH-funded |
| Lab location | 1 site (Kennesaw, United States) |
| Project start | July 19, 2023 |
| Project end | June 30, 2026 |
| Funding year | 2023 |
| Award (this year) | $432,000 |
| NIH project number | 1R15GM148887-01A1 |
| Project ID | NIH-10730632 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Kabuki-like syndrome or similar neurodevelopmental disorders.
✕Less likely to help
Patients with neurodevelopmental disorders not related to histone modification or those without genetic mutations affecting histone enzymes may not benefit from this research.
What this research studies
This research investigates the role of specific gene expressions and histone modifications in the development of Kabuki-like syndrome, a neurodevelopmental disorder. By using a model organism, C. elegans, the researchers aim to uncover how mutations in histone modifying enzymes lead to abnormal cell functions and developmental delays. The study focuses on the ectopic expression of germline genes in somatic tissues and how this contributes to various phenotypes associated with the syndrome. Through genetic manipulation, the research seeks to identify potential pathways for intervention.
Why it matters
Potential benefit: If successful, this research could lead to new insights and therapeutic strategies for treating neurodevelopmental disorders like Kabuki-like syndrome.
How similar studies have gone: While the specific approach of this research is novel, similar studies have shown promise in understanding the genetic basis of neurodevelopmental disorders.
Where this research is happening
-
Kennesaw State University
Kennesaw, United States Active
Researchers
- Principal investigator: Carpenter, Brandon Scott — Kennesaw State University
- Study coordinator: Carpenter, Brandon Scott
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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.