Understanding how a specific gene mutation affects brain degeneration in certain types of dementia
Single Cell Characterization of FTLD-GRN
This study is looking at how changes in the Progranulin gene might cause brain diseases like frontotemporal lobar degeneration and Alzheimer's, by exploring how these changes affect brain cells, especially the immune cells, to find new ways to help treat these conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10514141 on NIH RePORTER |
What this research studies
This research investigates the role of the Progranulin (GRN) gene in frontotemporal lobar degeneration (FTLD) and Alzheimer's disease by examining how mutations in this gene lead to neurodegeneration. Using advanced techniques like single-nuclei RNA sequencing, the study analyzes changes in brain cells, particularly focusing on microglia, which are immune cells in the brain. By comparing findings from genetically modified mice and human postmortem brain tissues, the research aims to uncover the mechanisms that drive disease progression and identify potential therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of FTLD or Alzheimer's disease, particularly those with known mutations in the GRN gene.
Not a fit: Patients with other forms of dementia unrelated to GRN mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and treatments for patients suffering from FTLD and Alzheimer's disease.
How similar studies have performed: Previous research has shown promising results in understanding the genetic factors contributing to neurodegeneration, suggesting that this approach could yield valuable insights.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Huang, Eric J — University of California, San Francisco
- Study coordinator: Huang, Eric J
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.