Understanding how certain gene expressions affect cell function in developmental disorders
Elucidating the mechanisms by which ectopically expressed genes and piRNAs perturb somatic cell function when histone methylation is inappropriately regulated
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 ID | NIH-10730632 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Kabuki-like syndrome or similar neurodevelopmental disorders.
Not a fit: Patients with neurodevelopmental disorders not related to histone modification or those without genetic mutations affecting histone enzymes may not benefit from this research.
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 performed: 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, United States
- Kennesaw State University — Kennesaw, United States (Active)
Researchers
- Principal investigator: Carpenter, Brandon Scott — Kennesaw State University
- Study coordinator: Carpenter, Brandon Scott
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.