Investigating genetic mutations that affect brain development and disorders in children
Somatic Mutations in Neurodevelopment and Disease
This study is looking at how certain genetic changes that happen in the brain before birth might be linked to conditions like epilepsy and autism in kids, with the goal of finding better ways to diagnose and care for these disorders.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11074106 on NIH RePORTER |
What this research studies
This research focuses on understanding how somatic mutations, which are genetic changes that occur after conception, contribute to neurological disorders such as epilepsy and autism in children. By using advanced algorithms and single-cell DNA technology, the study aims to identify these mutations during fetal brain development and understand their implications for brain health. The findings could lead to improved methods for diagnosing and detecting these disorders in clinical settings, ultimately enhancing patient care and outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who are experiencing neurological disorders such as epilepsy or autism.
Not a fit: Patients with neurological disorders not related to somatic mutations or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier detection and better understanding of neurological disorders in children, improving treatment options.
How similar studies have performed: Other research has shown promising results in understanding genetic mutations related to neurological disorders, indicating that this approach has potential for success.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Shao, Diane D — Boston Children's Hospital
- Study coordinator: Shao, Diane D
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.