Investigating gene expression changes in a specific type of dementia using fruit flies and human models
Cross validation of gene expression changes in C9orf72 FTD using Drosophila and human model systems
This study is looking at how certain gene changes, especially in the C9orf72 gene, affect frontotemporal dementia, using fruit flies to help understand the brain issues that come with it, with the hope of finding better treatments for people living with this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State Univ Hershey Med Ctr NIH-funded |
| Lab location | 1 site (Hershey, United States) |
| Project ID | NIH-11033635 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic and molecular mechanisms behind frontotemporal dementia (FTD), particularly those linked to mutations in the C9orf72 gene. By utilizing advanced techniques like single nuclei RNA sequencing and Drosophila models, the researchers aim to identify significant changes in gene expression associated with TDP-43 pathology, which is a hallmark of this condition. The study seeks to bridge findings from fruit fly models to human cases, potentially revealing insights into cognitive impairments experienced by patients. This approach may help in developing targeted therapies for those affected by FTD.
Who could benefit from this research
Good fit: Ideal candidates for this research include adults diagnosed with frontotemporal dementia, particularly those with a family history of dementia or mutations in the C9orf72 gene.
Not a fit: Patients with other forms of dementia not related to C9orf72 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for patients with frontotemporal dementia and related neurodegenerative diseases.
How similar studies have performed: Previous research has shown promising results in understanding gene expression changes in neurodegenerative diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Hershey, United States
- Pennsylvania State Univ Hershey Med Ctr — Hershey, United States (Active)
Researchers
- Principal investigator: Zarnescu, Daniela C — Pennsylvania State Univ Hershey Med Ctr
- Study coordinator: Zarnescu, Daniela C
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.