Gene editing to stop aortic aneurysms in Marfan syndrome
Official title: Genome editing therapeutics for the treatment of aortic aneurysm in Marfan Syndrome
Funded at Johns Hopkins University · NIH-11282721 · Data updated 2026-11-12
This project uses precise gene-editing to fix or compensate for faulty FBN1 genes in adults with Marfan syndrome to help prevent dangerous aortic enlargement and tearing.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | May 1, 2026 |
| Project end | April 30, 2031 |
| Funding year | 2026 |
| Award (this year) | $169,020 |
| NIH project number | 1K08HL183858-01 |
| Project ID | NIH-11282721 on NIH RePORTER |
Who could benefit from this research
✓Could help
The eventual target group would be adults with Marfan syndrome caused by harmful FBN1 variants—particularly those with mutations similar to the C1041G change—who are at risk of aortic aneurysm.
✕Less likely to help
People without FBN1-related Marfan syndrome, children, or patients whose aortic disease is already advanced and requires surgery are unlikely to benefit from this approach.
What this research studies
If I were involved, researchers would use precise gene-editing tools to correct the harmful FBN1 mutation or boost a related protein called FBN2 inside the cells of my aorta. They will first test these approaches in mice that carry a human-like Marfan mutation, focusing on the aortic vascular smooth muscle cells. The team will study whether the edits keep the aorta from dilating or tearing by examining tissue structure, strength, and molecular signals. These preclinical tests aim to show whether the approach is safe and promising enough to support future human trials.
Why it matters
Potential benefit: If successful, this could prevent or slow aortic root dilation and reduce the risk of life-threatening aortic dissection in people with Marfan syndrome.
How similar studies have gone: Gene-editing treatments have shown promise in animal studies and early human trials for other genetic conditions, but applying prime editing to aortic disease in Marfan syndrome is novel and not yet tested in people.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Ehmsen, Jeffrey Tevebaugh — Johns Hopkins University
- Study coordinator: Ehmsen, Jeffrey Tevebaugh
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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.