Investigating RNA splicing issues in neurodegenerative diseases like ALS and FTD
Official title: Targeting Dysregulated RNA Splicing in Neurodegenerative Diseases
Funded at Massachusetts General Hospital · NIH-10907757 · Data updated 2026-11-12
This study is looking at how changes in certain proteins that bind to RNA can cause problems with RNA processing in diseases like ALS and frontotemporal dementia, and it aims to find out how these issues affect nerve cell function.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $1,398,275 |
| NIH project number | 5RM1NS133601-02 |
| Project ID | NIH-10907757 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with ALS or FTD, particularly those with familial forms of these diseases.
✕Less likely to help
Patients with neurodegenerative diseases not related to ALS or FTD may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in RNA binding proteins lead to mis-splicing of RNA in neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). By using advanced cellular models derived from induced pluripotent stem cells (iPSCs) and long-read RNA sequencing, the research aims to identify the mechanisms behind RNA mis-splicing and its effects on neuronal function. The collaborative effort of three research teams will help uncover the relationships between different RNA binding proteins and the diverse splicing errors that occur in various cell types affected by these diseases.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that correct RNA splicing errors, potentially improving outcomes for patients with ALS and FTD.
How similar studies have gone: Previous research has shown promising results in targeting RNA splicing in related neurodegenerative conditions, suggesting that this approach may be effective.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Lagier-Tourenne, Clotilde — Massachusetts General Hospital
- Study coordinator: Lagier-Tourenne, Clotilde
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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.