Understanding how a specific genetic mutation affects brain development in a mouse model of Niemann-Pick Type C Disease
Official title: Elucidating the Impact of the Npc1nmf164 Mutation in the Cerebellar Postnatal Development of a Mouse Model of Niemann-Pick Type C Disease
Funded at Providence College · NIH-10512550 · Data updated 2026-11-12
This study looks at how a specific genetic change affects brain development in mice with Niemann-Pick Type C Disease, which can cause movement and thinking problems, to better understand what happens in the brain during early growth and how it might lead to these symptoms.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Providence College NIH-funded |
| Lab location | 1 site (Providence, United States) |
| Project start | August 1, 2018 |
| Project end | July 31, 2025 |
| Funding year | 2022 |
| Award (this year) | $397,205 |
| NIH project number | 2R15NS104994-02 |
| Project ID | NIH-10512550 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with Niemann-Pick Type C Disease or those who carry the Npc1 mutation.
✕Less likely to help
Patients without Niemann-Pick Type C Disease or those who do not carry the Npc1 mutation may not benefit from this research.
What this research studies
This research investigates the effects of the Npc1nmf164 mutation on the development of the cerebellum in a mouse model of Niemann-Pick Type C Disease, a genetic disorder that leads to neurological symptoms such as ataxia and cognitive impairment. The study focuses on how this mutation impacts the development and function of Purkinje cells and microglia during the critical postnatal period. By examining these cellular changes, the research aims to uncover the mechanisms that lead to neurodegeneration and the onset of symptoms in this condition.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of Niemann-Pick Type C Disease, potentially informing future treatments and interventions for affected individuals.
How similar studies have gone: Previous studies have shown promising results in understanding neurodegeneration in similar lysosomal storage diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Providence College
Providence, United States Active
Researchers
- Principal investigator: Soto Reyes, Ileana — Providence College
- Study coordinator: Soto Reyes, Ileana
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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.