Understanding how specific genetic mutations affect brain development and disorders in children
Gaining insights: the effects of the RMK gain-of-function mutations on brain development and neurodevelopmental disorders
This study is looking at how certain genetic changes linked to Noonan syndrome affect brain development in children, especially in areas that help with attention and learning, to better understand these effects and find ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-10894320 on NIH RePORTER |
What this research studies
This research investigates the impact of genetic mutations associated with Noonan syndrome on brain development and neurodevelopmental disorders in children. By focusing on specific genes, the study aims to uncover how these mutations influence brain structure and function, particularly in areas related to attention and learning. The research employs advanced imaging techniques and genetic analysis to explore the connections between these mutations and brain alterations. This could provide valuable insights into the mechanisms behind neurodevelopmental disorders, potentially leading to improved interventions.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Noonan syndrome or those exhibiting symptoms of neurodevelopmental disorders such as ADHD or autism.
Not a fit: Patients without genetic mutations related to Noonan syndrome or those not exhibiting neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children with neurodevelopmental disorders linked to genetic mutations.
How similar studies have performed: Previous research has shown promising results in understanding genetic influences on brain development, suggesting that this approach could yield significant insights.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Green, Tamar — Stanford University
- Study coordinator: Green, Tamar
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.