Investigating the causes of Krabbe disease through gene function loss
Selective galactosylceramidase ablation to study the pathogenesis of Krabbe leukodystrophy
This study is looking at how Krabbe disease affects the brain in babies by using a special mouse model, and the goal is to find new ways to help treat this serious condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project ID | NIH-11049565 on NIH RePORTER |
What this research studies
This research focuses on understanding Krabbe disease, a severe neurodegenerative disorder that primarily affects infants. By using a specialized mouse model that mimics the loss of a critical enzyme, researchers aim to uncover how this loss leads to brain cell death and the progression of the disease. The study examines the cellular responses and interactions in the brain that contribute to the disease's devastating effects. Insights gained could help identify new therapeutic targets and improve treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for participation or benefit from this research are infants diagnosed with Krabbe disease or those at high risk due to family history.
Not a fit: Patients with other forms of leukodystrophy or neurodegenerative disorders unrelated to Krabbe disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potentially new treatments for Krabbe disease, improving outcomes for affected children.
How similar studies have performed: Previous research has shown promise in understanding similar lysosomal storage disorders, indicating that this approach could yield valuable insights.
Where this research is happening
Amherst, United States
- State University of New York at Buffalo — Amherst, United States (Active)
Researchers
- Principal investigator: Shin, Daesung — State University of New York at Buffalo
- Study coordinator: Shin, Daesung
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.