Understanding how SORL 1-retromer affects Alzheimer's disease
SORL 1-Retromer Biology in the Pathogenesis of Alzheimers Disease
This study is looking at how changes in a specific gene related to Alzheimer's disease might affect the way proteins move in brain cells, with the goal of finding out which patients could benefit from new treatments that help fix these issues.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11074222 on NIH RePORTER |
What this research studies
This research investigates the role of the SORL 1-retromer complex in Alzheimer's disease by examining how genetic variations in the SORL 1 gene contribute to the disease's development. The study focuses on understanding the biological mechanisms that lead to neurodegeneration, particularly how mutations disrupt the normal trafficking of proteins within neurons. By identifying pathogenic mutations, the research aims to determine which patients may benefit from therapies designed to restore proper protein function and trafficking.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of Alzheimer's disease or those identified with pathogenic mutations in the SORL 1 gene.
Not a fit: Patients without genetic mutations linked to Alzheimer's disease or those with other forms of dementia may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for Alzheimer's disease that target the underlying genetic causes.
How similar studies have performed: Previous research has shown promising results in understanding genetic factors in Alzheimer's disease, making this approach both relevant and potentially impactful.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Petsko, Gregory a — Brigham and Women's Hospital
- Study coordinator: Petsko, Gregory 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.