TDP-43 splicing changes linked to frontotemporal dementia (FTD)
Discovery of novel TDP-43 splicing targets: the Achilles heel for FTD and towards sensitive biomarkers and therapeutic targets
Researchers will look for changes in how the protein TDP-43 controls gene splicing to find early signs and targets for people with frontotemporal dementia.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11172538 on NIH RePORTER |
What this research studies
If you or a loved one has frontotemporal dementia (FTD), this Center focuses on how the protein TDP‑43 causes harmful RNA splicing changes that may start the disease. The team combines human genetics, high-resolution images of human brain tissue, and laboratory models to find specific 'cryptic' splicing events that act as sensitive beacons of TDP‑43 activity. They will integrate genetics from Day 1 and make all data and code freely available through an online portal showing cellular-resolution TDP‑43 localization alongside splicing readouts. The goal is to use those splicing signals to guide earlier diagnosis and development of new treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with FTD or related disorders—especially those with known or suspected TDP‑43 pathology—or families willing to share clinical data or donate brain tissue.
Not a fit: People whose dementia is driven primarily by non‑TDP‑43 mechanisms (for example pure amyloid/tau Alzheimer cases) or those seeking immediate treatment are unlikely to derive direct benefit from this Center's work.
Why it matters
Potential benefit: If successful, this work could yield earlier, more sensitive biomarkers and point to new therapeutic targets for FTD.
How similar studies have performed: Prior studies have linked TDP‑43 to FTD, but focusing on cryptic splicing targets as sensitive biomarkers and integrating large-scale human genetics in a Center format is relatively novel.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Gitler, Aaron D. — Stanford University
- Study coordinator: Gitler, Aaron D.
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.