Investigating the role of genetic variations in frontotemporal dementia risk
Core B: Proteomics
This study is looking at how certain changes in a gene called MAPT might affect the chances of developing frontotemporal dementia, and it aims to help patients understand their genetic risks better, which could lead to more tailored treatments for them.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10906040 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific genetic variations, particularly in the MAPT gene, influence the risk of developing frontotemporal dementia and related tauopathies. By utilizing advanced proteomics techniques, the study aims to analyze the molecular differences between two common genetic haplotypes associated with varying risks of these conditions. Patients may benefit from insights gained about the genetic factors that contribute to their condition, potentially leading to more personalized treatment approaches. The research will be conducted at a specialized facility known for its expertise in mass-spectrometry based proteomics.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of frontotemporal dementia or those diagnosed with tauopathies.
Not a fit: Patients without any genetic predisposition to frontotemporal dementia or related tauopathies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of frontotemporal dementia and related disorders.
How similar studies have performed: Previous research has shown promise in using proteomics to uncover genetic influences on neurodegenerative diseases, suggesting that this approach may yield valuable insights.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Swaney, Danielle L — Icahn School of Medicine at Mount Sinai
- Study coordinator: Swaney, Danielle L
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.