Identifying genetic factors that influence the severity of autism in children
Discovery of genetic modifiers of PTEN-ASD severity in a library of genetically diverse iPSC lines
['FUNDING_CAREER'] · UNIVERSITY OF WISCONSIN-MADISON · NIH-10919219
This study is looking at how changes in the PTEN gene might affect the challenges kids with autism spectrum disorders face, using special cells to help understand these differences better, and it’s for families who want to learn more about how genetics can influence autism.
Quick facts
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WISCONSIN-MADISON (nih funded) |
| Locations | 1 site (MADISON, UNITED STATES) |
| Trial ID | NIH-10919219 on ClinicalTrials.gov |
What this research studies
This research investigates how genetic variations affect the severity of autism spectrum disorders (ASD) in children, particularly those with mutations in the PTEN gene. By using genetically diverse induced pluripotent stem cell (iPSC) lines, the study aims to understand how these genetic factors contribute to differences in physical, behavioral, and cognitive challenges among patients. The researchers will employ a novel cell culture method to efficiently analyze multiple cell lines simultaneously, allowing for a comprehensive assessment of genetic influences on ASD severity. Additionally, the study will validate findings through brain imaging and neurocognitive profiling of affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have been diagnosed with autism spectrum disorder, particularly those with known PTEN mutations.
Not a fit: Patients who do not have a diagnosis of autism spectrum disorder or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies that improve outcomes for children with autism by addressing specific genetic factors.
How similar studies have performed: Other research has shown promise in identifying genetic modifiers of autism, suggesting that this approach could yield valuable insights.
Where this research is happening
MADISON, UNITED STATES
- UNIVERSITY OF WISCONSIN-MADISON — MADISON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WOLTER, JUSTIN — UNIVERSITY OF WISCONSIN-MADISON
- Study coordinator: WOLTER, JUSTIN
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.
Conditions: Autism Spectrum Disorder patient, Autistic Disorder