Why a common chromosome 17 pattern raises risk for FTD and PSP
Uncovering the Genetic Mechanisms of the Chromosome 17q21.31 Tau Haplotype on Neurodegeneration Risk in FTD and PSP
Researchers are comparing two versions of a region on chromosome 17 to learn why some people have higher risk of frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP).
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-11418206 on NIH RePORTER |
What this research studies
If you or a family member has FTD or PSP, this project focuses on a common genetic pattern on chromosome 17 that is linked to higher disease risk. Researchers will compare the two main haplotypes (H1 and H2) and use advanced lab methods like ATAC-seq and 3‑D genome mapping to see how gene activity differs in specific brain-related cell types. The work uses human DNA and tissue samples alongside cell models to find which genes or regulatory elements change risk. Results are intended to point to molecular targets that could guide future tests or therapies.
Who could benefit from this research
Good fit: Ideal candidates include people diagnosed with FTD or PSP, family members with a strong history of these tauopathies, or individuals willing to provide blood or tissue samples for genetic and genomic analysis.
Not a fit: People without tau-related disorders (for example, those with only Alzheimer’s disease or unrelated conditions) are less likely to directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could reveal molecular steps driving tau-related dementias and identify targets for new treatments or diagnostic tests.
How similar studies have performed: The genetic link at 17q21.31 to tau diseases is well-established, but the precise mechanisms remain unproven and this project applies newer genomic and 3‑D mapping approaches that are relatively novel here.
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.