How specific gene changes in Noonan syndrome affect brain development, attention, and learning
Gaining insights: the effects of the RMK gain-of-function mutations on brain development and neurodevelopmental disorders
This project looks at how different Noonan syndrome gene mutations change brain growth and relate to attention, learning, and autism symptoms in children and adolescents.
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-11146699 on NIH RePORTER |
What this research studies
From a patient's perspective, researchers will enroll people with Noonan syndrome who have mutations in RAF1, PTPN11, or SOS1 and collect brain imaging and clinical measures of attention, learning, and autism-related behavior. The team will compare brain structure (including the striatum) and brain connectivity (such as frontostriatal circuits) across mutation types to see whether there is a gradient of severity. They will link those brain differences to behavioral and developmental profiles to understand how the genetic change may shape symptoms. The goal is to use Noonan syndrome as a human model to reveal how RAS/MAPK pathway mutations impact brain development.
Who could benefit from this research
Good fit: Children and adolescents with a confirmed Noonan syndrome diagnosis and known RAF1, PTPN11, or SOS1 mutations who can undergo MRI and behavioral testing are the best fit for participation.
Not a fit: People without Noonan syndrome, those with Noonan caused by other genes not studied here, or individuals unwilling/unable to travel for imaging may not get direct benefits from this project.
Why it matters
Potential benefit: If successful, the findings could help connect specific Noonan mutations to brain changes and point toward better-targeted supports or future therapies for attention and learning difficulties.
How similar studies have performed: Previous work, including by this lab, has shown PTPN11-related changes in striatal structure and connectivity, but the effects of RAF1 and SOS1 mutations on the human developing brain are less well known.
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.