Investigating how genetic variations affect diseases like Frontotemporal Dementia.
Project 2: Impact of H1/H2 haplotypes on cellular disease-associated phenotypes driven by FTD-causing MAPT mutations
This study is looking at how certain genetic differences might affect the way Frontotemporal Dementia and Progressive Supranuclear Palsy develop, with the hope that understanding these genes can help create more personalized treatments for patients.
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-10906064 on NIH RePORTER |
What this research studies
This research focuses on understanding the impact of specific genetic variations, known as H1 and H2 haplotypes, on the development of Frontotemporal Dementia (FTD) and Progressive Supranuclear Palsy (PSP). By analyzing the MAPT gene, which is linked to these conditions, the study aims to uncover how these genetic factors influence disease symptoms and progression. The approach includes advanced genetic techniques such as ATAC sequencing to identify causal variants and their effects on cellular behavior. Patients may benefit from insights that could lead to more personalized treatment options based on their genetic makeup.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Frontotemporal Dementia or Progressive Supranuclear Palsy, particularly those with known MAPT mutations.
Not a fit: Patients without a diagnosis of Frontotemporal Dementia or Progressive Supranuclear Palsy, or those without MAPT mutations, may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment strategies for patients with Frontotemporal Dementia and related disorders.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to neurodegenerative diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Geschwind, Daniel H — Icahn School of Medicine at Mount Sinai
- Study coordinator: Geschwind, Daniel H
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.