Investigating the effects of a specific genetic mutation linked to PACS1 Syndrome
Molecular, Cellular and Behavioral Impact of the R203W PACS1 Syndrome Mutation
This study is looking at how a specific change in the PACS1 gene affects brain development in people with PACS1 Syndrome, which can lead to challenges like learning difficulties and seizures, with the goal of finding new ways to help those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project ID | NIH-11103296 on NIH RePORTER |
What this research studies
This research focuses on PACS1 Syndrome, a neurodevelopmental disorder caused by a mutation in the PACS1 gene. The study aims to understand how the R203W mutation affects cellular processes and contributes to developmental issues such as intellectual disability, seizures, and autism. By examining the molecular and cellular mechanisms involved, researchers hope to identify potential therapeutic targets. The approach includes biophysical studies to analyze protein interactions and their impact on neuron development.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with PACS1 Syndrome or those carrying the R203W mutation.
Not a fit: Patients without the PACS1 R203W mutation or those with different neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients with PACS1 Syndrome and related neurodevelopmental disorders.
How similar studies have performed: While PACS1 Syndrome is a relatively new area of study, similar research on genetic mutations affecting neurodevelopment has shown promising results in understanding and potentially treating related conditions.
Where this research is happening
Pittsburgh, United States
- University of Pittsburgh at Pittsburgh — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Thomas, Gary — University of Pittsburgh at Pittsburgh
- Study coordinator: Thomas, Gary
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.