Targeting RNA Splicing to Help ALS and FTD Patients
Official title: Targeting Dysregulated RNA Splicing in Neurodegenerative Diseases
Funded at Massachusetts General Hospital · NIH-11384652 · Data updated 2026-11-12
A project at Massachusetts General Hospital aims to understand how faulty RNA splicing from ALS and FTD-related proteins affects brain cells and to find ways to fix it that could help patients.
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 | 2026 |
| Award (this year) | $1,621,934 |
| NIH project number | 5RM1NS133601-04 |
| Project ID | NIH-11384652 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with ALS or FTD who contribute to iPSC-derived cellular models or whose patient-derived cells can be used to study RNA splicing.
✕Less likely to help
Patients with non-ALS/FTD conditions or those not contributing patient-derived cells or data may not benefit.
What this research studies
Researchers will use patient-derived stem cell models to study six different brain cell types and how mis-spliced RNA contributes to ALS and FTD. They will apply advanced long-read RNA sequencing to map splicing changes across cells and identify key mis-spliced genes such as STMN2 and UNC13A. The work seeks to uncover why RNA-binding proteins mislocalize in disease and whether reversing mis-splicing is possible, with a focus on translating findings toward therapies for people with ALS/FTD.
Why it matters
Potential benefit: If successful, the work could lead to new therapeutic strategies that correct RNA mis-splicing in ALS/FTD patients.
How similar studies have gone: Earlier studies have linked mis-splicing to disease and identified important genes, with some progress in modeling splicing changes in patient cells.
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.