Effects of a specific PACS2 gene mutation on brain function and metabolism.
Impact of the E209K PACS2 Syndrome mutation on neuronal metabolism and neurotransmission.
This study is looking at how a change in the PACS2 gene affects brain function in people with PACS2 syndrome, and it aims to find new ways to help improve their condition.
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-11075890 on NIH RePORTER |
What this research studies
This research investigates how a mutation in the PACS2 gene affects brain metabolism and neurotransmission in patients with PACS2 syndrome, a neurodevelopmental disorder. The study will utilize advanced techniques like 2-photon microscopy to observe neuronal activity and metabolic processes in real-time. By understanding the underlying mechanisms of this mutation, researchers aim to identify potential therapeutic targets that could improve outcomes for affected individuals. The research will involve both cellular models and patient-derived samples to provide a comprehensive view of the mutation's impact.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with PACS2 syndrome or those carrying the PACS2E209K mutation.
Not a fit: Patients without the PACS2E209K mutation or those with unrelated neurodevelopmental disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment strategies for patients with PACS2 syndrome, potentially improving their neurological function and quality of life.
How similar studies have performed: While the specific mutation's effects are being explored, similar research on other neurodevelopmental disorders has shown promise in identifying metabolic pathways that can be targeted for treatment.
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.