Investigating how gene expression changes in single cells relate to diseases like frontotemporal dementia.
Official title: Multiome measurements connecting transcription start sites at single-nucleotide resolution, DNA methylation and open chromatin status to splicing outcome across single cells in health and disease
Funded at Weill Medical Coll of Cornell Univ · NIH-11014354 · Data updated 2026-11-12
This study is looking at how tiny changes in genes work in brain cells, especially in people with frontotemporal dementia, to help us understand what happens in healthy and diseased brains.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | February 1, 2024 |
| Project end | January 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $497,146 |
| NIH project number | 5R35GM152101-02 |
| Project ID | NIH-11014354 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with frontotemporal dementia or those interested in the genetic basis of neurological diseases.
✕Less likely to help
Patients with conditions unrelated to splicing disorders or those over 21 years old may not benefit from this research.
What this research studies
This research focuses on understanding how specific changes in gene expression and splicing occur at the single-cell level in both healthy and diseased tissues. By utilizing advanced sequencing technologies, the team aims to analyze brain cells from various developmental stages and conditions, particularly in relation to frontotemporal dementia. The methodology includes isolating and sequencing RNA from individual cells to identify how splicing variations contribute to disease. This approach could provide insights into the molecular mechanisms underlying neurological disorders.
Why it matters
Potential benefit: If successful, this research could lead to new diagnostic tools and therapeutic strategies for diseases like frontotemporal dementia.
How similar studies have gone: Other research has shown success in using advanced sequencing techniques to study gene expression, indicating that this approach has potential for significant findings.
Where this research is happening
-
Weill Medical Coll of Cornell Univ
New York, United States Active
Researchers
- Principal investigator: Tilgner, Hagen Ulrich — Weill Medical Coll of Cornell Univ
- Study coordinator: Tilgner, Hagen Ulrich
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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.