How H1 and H2 MAPT gene versions change brain cells
Project 1: Determination of molecular differences caused by tauopathy-associated H1 and H2 haplotypes
This project looks at how two versions of a gene region on chromosome 17 (H1 versus H2) change DNA packaging and gene activity in brain cells from people linked to tau-related diseases such as FTD and 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-11170009 on NIH RePORTER |
What this research studies
From a patient perspective, scientists will use blood or skin cells donated by people to make stem cells that are turned into brain cells in the lab. They will grow those cells in flat cultures and 3-D organoids and compare DNA accessibility (using ATAC-seq), gene expression, and cell behavior between the H1 and H2 MAPT haplotypes. The team will include samples from people of European and African ancestry to look for ancestry-specific effects. The work aims to link structural genetic differences to changes in neurons or glia that could raise or lower risk for tau-related disorders.
Who could benefit from this research
Good fit: Ideal candidates are people with a diagnosis or family history of tauopathies (like FTD or PSP) or individuals known to carry MAPT H1 or H2 who can donate blood or skin samples.
Not a fit: People without MAPT-related risk or those unable to provide biological samples should not expect direct clinical benefit from participating and this is not a therapy.
Why it matters
Potential benefit: If successful, this could point to biological mechanisms, biomarkers, or new drug targets that help prevent, diagnose, or treat tau-related brain disorders.
How similar studies have performed: Previous studies have repeatedly linked the MAPT H1 haplotype to higher tauopathy risk but mostly focused on MAPT splicing and clinical associations; using chromatin profiling and 3-D iPSC models to explore downstream functional effects is a relatively new approach.
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.