Investigating genetic factors linked to neurodegeneration in certain types of dementia
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 on chromosome 17 might affect the chances of developing conditions like Frontotemporal Dementia and Progressive Supranuclear Palsy, and it aims to help patients by finding new ways to treat these diseases.
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-10906034 on NIH RePORTER |
What this research studies
This research focuses on understanding how specific genetic variations on chromosome 17q21.31 influence the risk of developing tauopathies, such as Frontotemporal Dementia (FTD) and Progressive Supranuclear Palsy (PSP). By utilizing advanced genomic techniques, the study aims to uncover the mechanisms behind the differences in disease risk associated with two major genetic haplotypes, H1 and H2. Patients may benefit from insights gained into how these genetic factors contribute to neurodegeneration, potentially leading to new therapeutic targets. The research will involve analyzing gene expression and regulatory mechanisms in various cell types to better understand their roles in disease progression.
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 of African descent.
Not a fit: Patients with other forms of dementia not related to tauopathies may not receive benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for preventing or treating certain types of dementia.
How similar studies have performed: Other research has shown success in identifying genetic factors associated with neurodegenerative diseases, making this approach promising.
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.