Understanding how PTEN gene changes affect brain development in young children
Official title: Functional Analysis of Pathogenic Human PTEN Variants in Early Neurodevelopment
Funded at Yale University · NIH-10994618 · Data updated 2026-11-12
This study is looking at how changes in the PTEN gene, which is connected to autism and similar conditions, affect brain development in zebrafish, helping us learn more about what might cause these issues in children.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | December 16, 2022 |
| Project end | October 15, 2025 |
| Funding year | 2025 |
| Award (this year) | $34,024 |
| NIH project number | 5F31NS130899-03 |
| Project ID | NIH-10994618 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with autism or related neurodevelopmental disorders.
✕Less likely to help
Patients who do not have mutations in the PTEN gene or who are older than 11 years may not benefit from this research.
What this research studies
This research investigates the role of the PTEN gene, which is linked to autism and other neurodevelopmental disorders, in early brain development. Using advanced techniques like CRISPR-Cas9, researchers will create zebrafish models with specific mutations in the PTEN gene to observe how these changes impact brain structure and function. The study aims to identify neurodevelopmental abnormalities and understand the mechanisms by which PTEN influences brain cell growth and connectivity. This could lead to insights into the causes of autism and related conditions in children.
Why it matters
Potential benefit: If successful, this research could lead to new understanding and potential treatments for neurodevelopmental disorders like autism in children.
How similar studies have gone: Previous research has shown promising results in understanding genetic influences on neurodevelopment, making this approach both relevant and potentially impactful.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Carlson, Marina Alise — Yale University
- Study coordinator: Carlson, Marina Alise
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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.