Understanding how genetic variations affect brain cell activity and treatment options
Neuronal excitability and copy number variation disorders
This study is looking at how certain genetic changes might affect brain function in people with autism, and it’s exploring whether some existing medications could help fix these issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-10860942 on NIH RePORTER |
What this research studies
This research investigates how specific genetic changes, known as copy number variations (CNVs), contribute to neurodevelopmental disorders like autism. By examining the effects of these variations on brain cell activity, the team aims to identify how they disrupt normal brain function. The study utilizes advanced techniques such as neuroproteomics and super-resolution microscopy to analyze brain cells from mouse models and human stem cells. Additionally, the research explores the potential of repurposing existing medications, including anti-epileptic and cancer drugs, to correct these disruptions.
Who could benefit from this research
Good fit: Ideal candidates for this research include children aged 0-11 years who have been diagnosed with autism spectrum disorder or related neurodevelopmental conditions.
Not a fit: Patients who do not have neurodevelopmental disorders or those outside the specified age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment strategies for children with neurodevelopmental disorders, improving their quality of life.
How similar studies have performed: Previous research has shown promise in using drug repurposing strategies for neurodevelopmental disorders, indicating potential for success in this approach.
Where this research is happening
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Penzes, Peter — Northwestern University at Chicago
- Study coordinator: Penzes, Peter
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.