Investigating a genetic mutation related to brain disorders in rabbits
Official title: Ferroptosis in knock-in sepiapterin reductase mutation rabbits
Funded at Wayne State University · NIH-10932961 · Data updated 2026-11-12
This study is looking at how a genetic change linked to sepiapterin reductase deficiency affects brain health and could lead to conditions like cerebral palsy, using rabbits to help find new ways to treat kids with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Wayne State University NIH-funded |
| Lab location | 1 site (Detroit, United States) |
| Project start | September 21, 2023 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $580,836 |
| NIH project number | 5R01NS130258-02 |
| Project ID | NIH-10932961 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with cerebral palsy or those with sepiapterin reductase deficiency.
✕Less likely to help
Patients with conditions unrelated to neurometabolic disorders or those outside the pediatric age range may not benefit from this research.
What this research studies
This research focuses on understanding how a specific genetic mutation related to sepiapterin reductase deficiency affects brain health and contributes to conditions like cerebral palsy in a rabbit model. By using advanced gene editing techniques, the researchers will create rabbits that carry a human mutation to study the pathways of cell death, particularly ferroptosis, which is influenced by oxidative stress. The study aims to uncover the role of a critical cofactor, tetrahydrobiopterin (BH4), in these processes, potentially leading to new insights into treatment strategies for affected children.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for children with cerebral palsy and related neurometabolic disorders.
How similar studies have gone: While the specific approach using CRISPR in this context is novel, previous research has shown promise in studying similar pathways of cell death and their implications in brain disorders.
Where this research is happening
-
Wayne State University
Detroit, United States Active
Researchers
- Principal investigator: Tan, Sidhartha — Wayne State University
- Study coordinator: Tan, Sidhartha
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.