Understanding the genetics behind multiple hereditary exostoses
Official title: Functional Genomics of Multiple Hereditary Exostoses
Funded at University of Georgia · NIH-10989331 · Data updated 2026-11-12
This study is looking into the genetic causes of multiple hereditary exostoses (MHE), a condition in children that leads to extra bone growths, to help find new ways to slow down or prevent these growths from happening.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Georgia NIH-funded |
| Lab location | 1 site (Athens, United States) |
| Project start | September 24, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $379,003 |
| NIH project number | 1R21AR080957-01A1 |
| Project ID | NIH-10989331 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with multiple hereditary exostoses, particularly those with known genetic mutations in the EXT1 or EXT2 genes.
✕Less likely to help
Patients without a diagnosis of multiple hereditary exostoses or those with different genetic conditions will not benefit from this research.
What this research studies
This research investigates multiple hereditary exostoses (MHE), a genetic condition affecting children that leads to the formation of bone growths called exostoses. The study aims to identify the genetic mutations responsible for MHE, particularly focusing on the EXT1 and EXT2 genes, which are crucial for the production of heparan sulfate. By utilizing advanced techniques such as CRISPR, the researchers hope to uncover how these mutations disrupt normal bone growth and contribute to the disease's progression. The ultimate goal is to find new therapeutic targets that could slow down or prevent the development of exostoses in affected children.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that prevent or slow the progression of multiple hereditary exostoses in children.
How similar studies have gone: While research on MHE is limited, similar genetic studies using CRISPR technology have shown promise in identifying and targeting genetic mutations in other conditions.
Where this research is happening
-
University of Georgia
Athens, United States Active
Researchers
- Principal investigator: Weiss, Ryan Joseph — University of Georgia
- Study coordinator: Weiss, Ryan Joseph
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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.