How a change on chromosome 17q21.31 affects risk for Frontotemporal Dementia and Progressive Supranuclear Palsy
Uncovering the Genetic Mechanisms of the Chromosome 17q21.31 Tau Haplotype on Neurodegeneration Risk in FTD and PSP
Researchers are looking at how a common chromosome change called the 17q21.31 haplotype influences gene activity in brain cells and risk for 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-11169998 on NIH RePORTER |
What this research studies
From a patient perspective, scientists will compare the two major 17q21.31 haplotypes (H1 and H2) to see how they change gene regulation in specific brain cell types. They will use modern genomics tools such as 3-D genome mapping and ATAC-seq to find where DNA is open or closed and how that affects gene expression. The team will analyze human-derived samples and genetic data, including work that considers ancestry differences, to pinpoint the regulatory elements that drive higher tau-disease risk. Findings are intended to identify specific genes or regulatory sites that could become targets for future therapies.
Who could benefit from this research
Good fit: Ideal participants would include people diagnosed with FTD or PSP, relatives with MAPT mutations, or individuals willing to donate DNA or brain tissue samples, especially from diverse ancestral backgrounds.
Not a fit: People without FTD/PSP or those unwilling to provide samples are unlikely to receive direct clinical benefit from participating, as this project is focused on laboratory and genetic research rather than treatment.
Why it matters
Potential benefit: If successful, this work could reveal specific genetic targets for new treatments and improve understanding of who is at higher risk for FTD and PSP.
How similar studies have performed: Genetic links between the 17q21.31 region and tau diseases are well established, but detailed cell-type and regulatory mechanisms remain largely untested and this project applies newer 3-D genomics and ATAC-seq approaches to address that gap.
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.