Understanding brain development in children with specific genetic changes
Quantitative mass spectrometry for comprehending epigenetic mechanisms in a new underlying neurological developmental disorder
This project helps us learn how changes in certain genes affect brain development in children with neurological and facial differences.
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-11146608 on NIH RePORTER |
What this research studies
Our bodies have special proteins called histones that help organize our DNA and control how genes work. Researchers have found new genetic changes in these histone proteins in children who have similar neurological conditions and differences in their face and skull. We believe these changes disrupt how genes are turned on and off, leading to problems with brain development. This work aims to uncover the exact ways these genetic changes cause these conditions, which could lead to new ways to help these children.
Who could benefit from this research
Good fit: This research focuses on understanding the underlying biology of neurological disorders and craniofacial abnormalities in pediatric patients with specific germline mutations in H3FA and H3FB genes.
Not a fit: Patients without these specific genetic mutations or those with different types of neurological conditions may not directly benefit from this particular research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of these rare neurological disorders, potentially guiding the development of new treatments or diagnostic tools for affected children.
How similar studies have performed: While somatic mutations in histone H3.3 have been linked to brain cancers, these germline mutations in pediatric neurological disorders are newly discovered, making this a novel area of investigation.
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.