Investigating the role of CSPalpha in a type of adult neurodegenerative disease
The role of CSPalpha in Adult onset neuronal Lipofuscinosis pathogenesis
This study is looking at how changes in a specific gene might affect brain cells in people with adult-onset neuronal ceroid lipofuscinosis, a serious brain condition, to help find new ways to treat it.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Beth Israel Deaconess Medical Center NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10592180 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the DNAJC5 gene contribute to adult-onset neuronal ceroid lipofuscinosis (ANCL), a severe neurodegenerative condition. The study aims to explore the role of CSPalpha in the endo-lysosomal pathway and its impact on neuronal and microglial function. By utilizing advanced techniques such as bulk-RNA sequencing and proteomics, researchers will analyze brain cells from patients with DNAJC5 mutations to identify changes in gene expression and protein levels. This approach may uncover critical mechanisms behind neurodegeneration in ANCL, potentially leading to new therapeutic strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults diagnosed with autosomal dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) due to DNAJC5 mutations.
Not a fit: Patients with other forms of neurodegenerative diseases not related to DNAJC5 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of ANCL and pave the way for the development of targeted treatments.
How similar studies have performed: While the specific approach of this research is novel, previous studies have shown success in understanding neurodegenerative diseases through genetic and molecular analysis.
Where this research is happening
Boston, United States
- Beth Israel Deaconess Medical Center — Boston, United States (Active)
Researchers
- Principal investigator: Benitez, Bruno a. — Beth Israel Deaconess Medical Center
- Study coordinator: Benitez, Bruno a.
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.