Investigating genetic differences linked to tau-related brain diseases
Project 1: Determination of molecular differences caused by tauopathy-associated H1 and H2 haplotypes
['FUNDING_OTHER'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-10906053
This study is looking at how differences in a specific gene might affect the chances of developing certain brain diseases, like Frontotemporal Dementia and Progressive Supranuclear Palsy, by examining how these genes work in brain cells from people of various backgrounds.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10906053 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding how genetic variations in the MAPT gene, specifically the H1 and H2 haplotypes, influence the risk of developing tauopathies like Frontotemporal Dementia and Progressive Supranuclear Palsy. By examining the chromatin structure and gene expression in cells from individuals of different ancestries, the study aims to uncover the biological mechanisms that contribute to these diseases. Researchers will utilize advanced techniques, including induced pluripotent stem cell models, to explore how these genetic differences affect brain cell function and health.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of tauopathies or those diagnosed with Frontotemporal Dementia or Progressive Supranuclear Palsy.
Not a fit: Patients without any genetic predisposition to tauopathies or those not of European or African ancestry may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potentially new treatments for tauopathies, improving outcomes for affected patients.
How similar studies have performed: Previous research has established a genetic link between MAPT haplotypes and tauopathies, but this investigation into the functional implications of these differences is relatively novel.
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.