Investigating the role of a brain protein in childhood neurological disorders
GluN2D in Development and Disease
This study is looking at how changes in a specific part of brain receptors might affect brain development and lead to conditions like epilepsy and autism, using zebrafish to learn more about how these changes impact neuron formation, which could help us find better treatments for patients.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University New York Stony Brook NIH-funded |
| Lab location | 1 site (Stony Brook, United States) |
| Project ID | NIH-10704178 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the GluN2D subunit of NMDA receptors affect brain development and contribute to neurological disorders like epilepsy and autism. Using zebrafish as a model organism, the researchers will explore how the absence of GluN2D impacts the formation of neurons in the brain. The study aims to identify the mechanisms by which these mutations lead to developmental and epileptic encephalopathies, providing insights that could inform future treatments. Patients may benefit from a better understanding of their conditions and potential new therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research include children aged 0-11 years who have been diagnosed with epilepsy or other neurodevelopmental disorders associated with NMDA receptor mutations.
Not a fit: Patients with neurological disorders not related to NMDA receptor mutations 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 improved understanding and treatment options for children with neurological disorders linked to GluN2D mutations.
How similar studies have performed: Previous research has shown success in using zebrafish models to study genetic mutations related to neurological disorders, suggesting that this approach is promising.
Where this research is happening
Stony Brook, United States
- State University New York Stony Brook — Stony Brook, United States (Active)
Researchers
- Principal investigator: Sirotkin, Howard I — State University New York Stony Brook
- Study coordinator: Sirotkin, Howard I
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.