Exploring how BORCS5 affects brain cell function and degeneration
Official title: Understanding the role of BORCS5 in neuronal lysosomal function and neurodegeneration
Funded at Northwestern University at Chicago · NIH-10991802 · Data updated 2026-11-12
This study is looking at how changes in the BORCS5 gene affect tiny parts of our cells called lysosomes, which help keep brain cells healthy, and it aims to understand how these changes might lead to movement disorders like Parkinson's disease and dystonia, with hopes of finding new ways to help patients in the future.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | December 1, 2023 |
| Project end | November 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $228,015 |
| NIH project number | 5K08NS131581-02 |
| Project ID | NIH-10991802 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with early-onset neurodegeneration and known mutations in the BORCS5 gene.
✕Less likely to help
Patients without BORCS5 mutations or those with unrelated neurodegenerative conditions may not benefit from this research.
What this research studies
This research investigates the role of the BORCS5 gene in the function of lysosomes, which are crucial for maintaining healthy brain cells. It focuses on understanding how mutations in BORCS5 lead to neurodegenerative diseases, particularly those affecting movement, such as Parkinson's disease and dystonia. By studying the cellular mechanisms involved, the research aims to uncover how these mutations disrupt lysosomal function and contribute to neuronal degeneration. Patients may benefit from insights that could lead to new therapeutic strategies targeting these pathways.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for neurodegenerative diseases linked to lysosomal dysfunction.
How similar studies have gone: Previous research has shown that targeting lysosomal dysfunction can lead to significant advancements in treating neurodegenerative diseases, suggesting a promising avenue for this investigation.
Where this research is happening
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Mencacci, Niccolo E — Northwestern University at Chicago
- Study coordinator: Mencacci, Niccolo E
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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.