Understanding Autism and Cancer in People with PTEN Gene Changes
Modeling Autism and Comorbid Cancer Risk in Individuals with Germline PTEN Mutations
This research looks at how changes in the PTEN gene might lead to autism and cancer in individuals, aiming to better predict who might be affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cleveland Clinic Lerner Com-Cwru NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-11146596 on NIH RePORTER |
What this research studies
We know that changes in the PTEN gene can cause a condition called PTEN hamartoma tumor syndrome (PHTS), which increases the risk for both overgrowth and cancer. These gene changes are also a common reason for neurodevelopmental differences like autism spectrum disorder (ASD) and developmental delay (DD). This project aims to understand why some people with PTEN changes develop ASD/DD and if their cancer risks are different. By looking at biological factors like metabolism and other genetic markers in patient samples, we hope to create more accurate individual risk predictions.
Who could benefit from this research
Good fit: This research is relevant for individuals with PTEN hamartoma tumor syndrome (PHTS), germline PTEN mutations, autism spectrum disorder (ASD), or developmental delay (DD).
Not a fit: Individuals without PTEN gene mutations or related conditions would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to more precise predictions for individuals with PTEN mutations regarding their risk for autism and cancer, allowing for earlier intervention or personalized care.
How similar studies have performed: This project builds upon existing knowledge and proof-of-principle data, aiming to refine understanding of individual disease risk beyond population-level probabilities.
Where this research is happening
Cleveland, United States
- Cleveland Clinic Lerner Com-Cwru — Cleveland, United States (Active)
Researchers
- Principal investigator: Ni, Ying — Cleveland Clinic Lerner Com-Cwru
- Study coordinator: Ni, Ying
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.