Creating a mouse model to study Glut1 deficiency syndrome.
A "humanized" mouse model of Glut1 deficiency syndrome.
This study is creating special mice that have Glut1 deficiency syndrome, which will help researchers learn more about how this condition affects the brain and find better ways to treat it.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10506187 on NIH RePORTER |
What this research studies
This research focuses on understanding Glut1 deficiency syndrome, a condition that affects the brain's ability to utilize glucose, leading to severe cognitive dysfunction and other neurological issues. The researchers aim to develop a 'humanized' mouse model that mimics this syndrome, allowing for a better understanding of its underlying mechanisms and potential treatments. By studying these mice, the team hopes to uncover the cellular and molecular processes involved in brain energy deprivation and how they contribute to the symptoms of the disease.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Glut1 deficiency syndrome or those experiencing cognitive dysfunction related to glucose transport issues.
Not a fit: Patients with cognitive dysfunction not related to Glut1 deficiency syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for patients suffering from Glut1 deficiency syndrome and related cognitive disorders.
How similar studies have performed: While research on Glut1 deficiency syndrome is ongoing, the development of humanized animal models for studying this condition is a relatively novel approach.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Monani, Umrao — Columbia University Health Sciences
- Study coordinator: Monani, Umrao
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.