Investigating how TDP-43 loss affects splicing in frontotemporal lobar degeneration.
Cryptic exon splicing mediated by TDP-43 loss of function as the underlying mechanism of pathogenesis in FTLD-TDP
This study is looking into how problems with a protein called TDP-43 might lead to frontotemporal lobar degeneration (FTLD), and it's for anyone interested in understanding the early signs of this condition and how it develops.
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-10915048 on NIH RePORTER |
What this research studies
This research focuses on understanding the mechanisms behind frontotemporal lobar degeneration (FTLD) related to TDP-43 protein dysfunction. A diverse team of experts in genetics, neuroscience, and pathology is collaborating to explore how mis-splicing events caused by TDP-43 loss may initiate the disease process. The project aims to integrate human genetics from the outset and provide open access to data and resources, including high-resolution images of brain tissues, to facilitate further research in the field. By identifying cryptic splicing events, the research seeks to shed light on the early stages of FTLD-TDP pathogenesis.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with frontotemporal lobar degeneration or related conditions.
Not a fit: Patients with other neurodegenerative diseases not related to TDP-43 dysfunction may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapeutic targets for treating frontotemporal lobar degeneration.
How similar studies have performed: Other research has shown promise in understanding TDP-43's role in neurodegeneration, making this approach both relevant and potentially impactful.
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.