Understanding how specific gene mutations affect development in children
Dissecting out differential molecular phenotypes across Lysine(K) AcetylTransferase mutations in mouse development
This study is looking at how changes in specific genes might affect the growth and development of children with certain syndromic disorders, like autism, by using mice to learn more about how these changes can disrupt normal development.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project ID | NIH-10891666 on NIH RePORTER |
What this research studies
This research investigates how mutations in certain genes, known as histone acetyltransferases, impact the development of children with syndromic disorders. By using mouse models, the study aims to uncover the mechanisms by which these mutations disrupt normal developmental processes, particularly in relation to conditions like autism and other developmental delays. The researchers will analyze the accessibility of DNA regions to understand how these genetic changes affect cell function and development. This work could provide insights into the underlying causes of various pediatric disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have been diagnosed with syndromic disorders, particularly those associated with mutations in histone acetyltransferases.
Not a fit: Patients who do not have genetic mutations related to histone acetyltransferases or who are outside the age range of 0-11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for developmental disorders in children.
How similar studies have performed: Previous research has shown promising results in understanding the role of epigenetic factors in developmental disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Los Angeles, United States
- University of California Los Angeles — Los Angeles, United States (Active)
Researchers
- Principal investigator: Arboleda, Valerie a — University of California Los Angeles
- Study coordinator: Arboleda, Valerie a
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.