Understanding the link between PTEN mutations, autism, and cancer risk
Modeling Autism and Comorbid Cancer Risk in Individuals with Germline PTEN Mutations
This study is looking at how certain genetic changes related to PTEN can influence the chances of developing autism or cancer, so that people with these changes can get more personalized information and support.
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-10894042 on NIH RePORTER |
What this research studies
This research investigates how germline PTEN mutations, which are linked to both autism spectrum disorder (ASD) and cancer, affect individual risk profiles. By analyzing biological factors such as metabolomic and genomic markers in patients with PTEN mutations, the study aims to provide more accurate predictions of ASD and cancer risk on a personal level. The approach includes collecting and analyzing patient-derived plasma and cell lines to identify specific markers associated with these conditions. This could lead to tailored risk assessments and interventions for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with germline PTEN mutations, particularly those showing signs of autism spectrum disorder or developmental delays.
Not a fit: Patients without germline PTEN mutations or those not exhibiting ASD or developmental delays may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to personalized risk assessments for autism and cancer in individuals with PTEN mutations, improving early detection and intervention strategies.
How similar studies have performed: Previous research has shown promising results in identifying genetic and metabolic markers associated with autism and cancer, suggesting that this approach could yield valuable insights.
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.