Understanding how genetic mutations affect brain development in children
Quantitative mass spectrometry for comprehending epigenetic mechanisms in a new underlying neurological developmental disorder
This study is looking at how certain genetic changes in kids might be connected to brain and facial issues, and it hopes to find out how these changes affect how genes work, which could help doctors better understand and treat these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-10890737 on NIH RePORTER |
What this research studies
This research investigates the role of specific genetic mutations in the H3FA and H3FB genes that have been linked to neurological disorders and craniofacial abnormalities in pediatric patients. By utilizing advanced techniques like quantitative mass spectrometry, the study aims to explore how these mutations disrupt epigenetic mechanisms that regulate gene expression and chromatin structure. Patients may benefit from insights gained into the underlying causes of their conditions, potentially leading to improved diagnostic and therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are pediatric patients diagnosed with neurological disorders or craniofacial abnormalities linked to genetic mutations.
Not a fit: Patients with neurological disorders not associated with the specific genetic mutations being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide critical insights into the genetic basis of neurological disorders, leading to better treatment options for affected children.
How similar studies have performed: Previous research has shown promising results in understanding the role of epigenetic mechanisms in various human disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Garcia, Benjamin a — Washington University
- Study coordinator: Garcia, Benjamin 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.