Gaining insights into how Noonan syndrome mutations affect brain development and neurodevelopmental disorders
Official title: Gaining insights: the effects of the RMK gain-of-function mutations on brain development and neurodevelopmental disorders
Funded at Stanford University · NIH-11384519 · Data updated 2026-11-12
This project studies how specific Noonan syndrome gene mutations shape brain development and related disorders in children.
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 start | August 21, 2022 |
| Project end | July 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $562,596 |
| NIH project number | 5R01HD108684-05 |
| Project ID | NIH-11384519 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children with Noonan syndrome carrying RAF1, PTPN11, or SOS1 mutations who have or are at risk for neurodevelopmental symptoms.
✕Less likely to help
Children without these NS mutations or without neurodevelopmental concerns may not benefit from this specific genetic-brain mapping.
What this research studies
Noonan syndrome mutations in RMK genes are linked to brain development changes and neurodevelopmental disorders like ADHD and autism. The study will examine RAF1, PTPN11, and SOS1 mutations to see how they alter brain structure and frontostriatal connectivity in a gradient of severity. Using human data and brain imaging, the researchers aim to map how these genetic changes translate into neurodevelopmental outcomes to better understand why some children struggle with attention, learning, and social skills. This work builds on prior findings about PTPN11 and expands to other NS genes to provide a more complete picture of the brain impacts of RMK-pathway mutations.
Why it matters
Potential benefit: If successful, the research could clarify how specific genetic changes lead to neurodevelopmental issues, guiding earlier diagnosis and targeted therapies for affected children.
How similar studies have gone: Preliminary findings on PTPN11 mutations affecting brain structure and function support studying additional NS genes, suggesting potential for meaningful insights.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Green, Tamar — Stanford University
- Study coordinator: Green, Tamar
Related research
Other NIH-funded projects on the same topics.
-
Intergenerational factors in neurodevelopmental disorders
This project looks at how experiences before and during pregnancy across generations may influence the risk of neurodevelopmental conditions like ADHD, autism, and related disorders in grandchildren.
-
Understanding brain signals in autism to identify biologically distinct subtypes
This study uses EEG to link how the brain processes sensory information with behavior in young children with autism and related concerns.
-
Clinical Translational Research Center for Neurodevelopmental Disorders
A funded center supports research on neurodevelopmental disorders like Angelman syndrome and autism to better understand causes and improve treatments for children.
-
Synaptic nanostructure in neurodevelopmental disorders
This project aims to map the tiny architecture of brain synapses in native cells to understand how connections form and change in neurodevelopmental disorders.
-
Maternal acetaminophen use in pregnancy and ADHD risk in children
A large study will follow thousands of mother-child pairs to see if taking acetaminophen during pregnancy relates to ADHD in kids.
-
GDF11’s role in brain development and autism-related disorders
A new NIH grant tests whether adjusting a growth factor called GDF11 can improve brain function and behaviors in models related to autism and other neurodevelopmental disorders.
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.