Investigating how a specific cellular pathway contributes to neurodegenerative diseases like ALS and FTD.
Official title: Role of the TE-cGAS-STING pathway in C9orf72-ALS/FTD pathogenesis
Funded at Thomas Jefferson University · NIH-11058785 · Data updated 2026-11-12
This study is looking at how certain genetic changes might cause problems in brain cells that lead to diseases like ALS and frontotemporal dementia, and it's for anyone interested in understanding what happens in these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 18, 2024 |
| Project end | August 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $697,907 |
| NIH project number | 1R01NS136624-01A1 |
| Project ID | NIH-11058785 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with C9orf72-associated ALS or FTD.
✕Less likely to help
Patients with neurodegenerative diseases not associated with the C9orf72 gene may not benefit from this research.
What this research studies
This research focuses on understanding the role of the TE-cGAS-STING pathway in the development of neurodegenerative diseases, particularly C9orf72-associated amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The researchers will explore how genomic instability and the mobilization of transposable elements affect neuronal function and contribute to disease progression. By studying patient-derived induced pluripotent stem cells, they aim to uncover the mechanisms that lead to neuroinflammation and neuronal death, which are critical in these conditions.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that target the underlying mechanisms of ALS and FTD, potentially improving patient outcomes.
How similar studies have gone: Previous research has shown promising results in understanding similar pathways in neurodegenerative diseases, indicating potential for success in this novel approach.
Where this research is happening
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Trotti, Davide — Thomas Jefferson University
- Study coordinator: Trotti, Davide
Related research
Other NIH-funded projects on the same topics.
-
Understanding CAG repeat instability in Huntington’s disease
A Huntington’s disease study explores why the CAG repeat in the HTT gene becomes unstable and leads to earlier disease, aiming to uncover factors that influence when and how the disease starts.
-
Noninvasive portal pressure estimation using ultrasound-based subharmonic signals
A noninvasive ultrasound method to estimate portal vein pressure in adults with cirrhosis to help manage varices and ascites.
-
Twice-reading RNA sequencing to better map RNA modifications
Researchers are using a novel method to read RNA twice to more accurately map chemical modifications in human transcripts, which could help us understand health and disease.
-
Improving HIV Prevention for Women in ObGyn Care
Aimed at helping women in obstetric/gynecologic care reduce their risk of HIV by making PrEP and risk–screening more accessible and acceptable.
-
Immunostimulatory short non-coding RNAs and lupus
A study in people with lupus looks at tiny RNA pieces that may spark inflammation, to understand if they drive disease activity.
-
Global Network for Women’s and Children’s Health: New Cycle Leadership and Collaboration
A long-standing collaboration between TJU and JNMC is expanding to lead and coordinate efforts to improve the health of mothers and young children in low-resource settings.
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.