How RNA problems cause nerve and muscle damage in spinal muscular atrophy
Official title: RNA-Mediated Mechanisms of Motor System Dysfunction in Spinal Muscular Atrophy
Funded at Columbia University Health Sciences · NIH-11285173 · Data updated 2026-11-12
This project looks at how RNA-related problems lead to nerve and muscle damage in people with spinal muscular atrophy to help find better treatment targets.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | June 1, 2017 |
| Project end | February 28, 2029 |
| Funding year | 2026 |
| Award (this year) | $649,910 |
| NIH project number | 5R01NS102451-08 |
| Project ID | NIH-11285173 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with spinal muscular atrophy—especially those who still have motor deficits after approved SMN-increasing treatments or who started treatment later—would be most relevant.
✕Less likely to help
People without SMA or those whose symptoms are already well controlled by current therapies are unlikely to see direct benefit from this basic mechanistic work in the short term.
What this research studies
If you live with SMA, this work explores why nerves and muscles weaken even when SMN-boosting therapies are used. The team uses mouse models and laboratory studies of nerve and muscle tissue to trace how low SMN levels cause errors in RNA splicing and other RNA processes that harm motor neurons and neuromuscular junctions. They pay special attention to connections between sensory and motor neurons that break down early in the disease and test molecular ways to correct RNA pathways. The goal is to identify targets that could be combined with current treatments to improve strength and movement.
Why it matters
Potential benefit: Could identify new molecular targets that improve nerve function and muscle strength for people with SMA beyond existing SMN-targeting therapies.
How similar studies have gone: Previous research has connected RNA-splicing defects to SMA and SMN-boosting drugs have improved outcomes, but targeting additional RNA pathways is a newer approach still being developed.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Pellizzoni, Livio — Columbia University Health Sciences
- Study coordinator: Pellizzoni, Livio
Related research
Other NIH-funded projects on the same topics.
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Genetic clues to mouth muscles development in SMA
A small NIH grant studies how nerve cells controlling jaw movements develop normally and how this process goes wrong in spinal muscular atrophy (SMA).
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Therapeutic gene editing for spinal muscular atrophy
A patient-facing look at a project that aims to test a gene-editing approach to help children with spinal muscular atrophy.
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SMN-independent approaches for spinal muscular atrophy
This project looks for new treatments for people with spinal muscular atrophy that work without relying only on restoring the SMN protein.
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Investigating speech development in children with spinal muscular atrophy after new therapies
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Correcting Genetic Errors for Spinal Muscular Atrophy
This research looks for new ways to fix the genetic problem that causes Spinal Muscular Atrophy, a condition that weakens muscles.
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Gene editing to treat spinal muscular atrophy
This study is working on a new gene editing treatment for spinal muscular atrophy (SMA) to see how well it can help improve muscle strength and overall health, especially for infants affected by this condition.
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.