Correcting Genetic Errors for Spinal Muscular Atrophy
Official title: Genetic Suppression of SMN Mutations in Spinal Muscular Atrophy
Funded at Ohio State University · NIH-11123252 · Data updated 2026-11-12
This research looks for new ways to fix the genetic problem that causes Spinal Muscular Atrophy, a condition that weakens muscles.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project start | July 1, 2021 |
| Project end | June 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $496,975 |
| NIH project number | 5R01NS123736-05 |
| Project ID | NIH-11123252 on NIH RePORTER |
Who could benefit from this research
✓Could help
This research is most relevant to patients with Spinal Muscular Atrophy caused by specific missense mutations in the SMN1 gene.
✕Less likely to help
Patients whose Spinal Muscular Atrophy is caused by other genetic factors or who do not have SMN1 missense mutations may not directly benefit from this specific approach.
What this research studies
Spinal Muscular Atrophy (SMA) happens when the body doesn't make enough of a protein called SMN, leading to muscle weakness. Our team is exploring how specific genetic changes in the SMN1 gene, found in some SMA patients, affect this protein's function. We've discovered that certain parts of the SMN protein can work together to restore its activity, and we've even identified another protein, SmF, that can correct the issues caused by a particular SMN mutation in lab settings. The next step is to test this SmF protein in mouse models of SMA to see if it can improve muscle function and extend life. This work aims to uncover new ways to address the root cause of SMA by fixing the genetic errors.
Why it matters
Potential benefit: If successful, this work could lead to new treatments that directly correct the genetic defects causing Spinal Muscular Atrophy.
How similar studies have gone: Previous lab and mouse studies have shown promising results in restoring SMN protein function, and this project builds on those findings to test a newly identified suppressor.
Where this research is happening
-
Ohio State University
Columbus, United States Active
Researchers
- Principal investigator: Burghes, Arthur H. M. — Ohio State University
- Study coordinator: Burghes, Arthur H. M.
Related research
Other NIH-funded projects on the same topics.
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This study is looking at how new treatments for spinal muscular atrophy (SMA) can help improve speech and communication skills in children and young adults aged 2 to 21, by comparing their speech abilities to what’s expected for their age.
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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.