Investigating genetic factors linked to neurodegeneration in certain dementia types
Uncovering the genetic mechanisms of the Chromosome 17q21.31 Tau haplotype on neurodegeneration risk in FTD and PSP
This study is looking at how certain genes might affect the chances of developing Frontotemporal Dementia and Progressive Supranuclear Palsy, with the hope that understanding these genetic links can help create better treatments or prevention strategies for people at risk.
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-11096744 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific genetic variations at the 17q21.31/MAPT locus contribute to the risk of developing Frontotemporal Dementia (FTD) and Progressive Supranuclear Palsy (PSP). By analyzing both common and rare genetic variants, the study aims to uncover the mechanisms by which these genetic factors influence the onset and progression of these neurodegenerative diseases. The research employs advanced techniques, including massively parallel reporter assays, to identify causal variants and their effects on disease phenotypes. Patients may benefit from insights that could lead to targeted therapies or preventive strategies based on their genetic profiles.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of Frontotemporal Dementia or Progressive Supranuclear Palsy, particularly those who may carry specific genetic variants.
Not a fit: Patients without a genetic predisposition to these neurodegenerative conditions or those not exhibiting symptoms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for patients at risk of FTD and PSP based on their genetic makeup.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to neurodegenerative diseases, making this approach both relevant and potentially impactful.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Goate, Alison M — Icahn School of Medicine at Mount Sinai
- Study coordinator: Goate, Alison M
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.