Understanding the genetic causes of Myotonic Dystrophy Type 2
Official title: Molecular Consequences of Myotonic Dystrophy Type 2-causing CCTG DNA Repeats
Funded at California State University San Marcos · NIH-10975184 · Data updated 2026-11-12
This study is looking at Myotonic Dystrophy Type 2, a genetic disorder, by using yeast to understand how certain DNA repeats can cause problems in our genes, which might help us find new ways to treat this condition.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | California State University San Marcos NIH-funded |
| Lab location | 1 site (San Marcos, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $434,750 |
| NIH project number | 1R15GM155842-01 |
| Project ID | NIH-10975184 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Myotonic Dystrophy Type 2, particularly those with significant CCTG repeat expansions.
✕Less likely to help
Patients with other forms of muscular dystrophy or those without CCTG repeat expansions may not benefit from this research.
What this research studies
This research investigates the genetic disorder Myotonic Dystrophy Type 2, which is caused by long CCTG DNA repeats. Using a model organism called budding yeast, the project aims to uncover the molecular mechanisms behind the instability of these DNA repeats, focusing on how they can lead to chromosomal damage. The study will analyze specific genes involved in DNA repair and their role in the contractions of these repeats, which could provide insights into potential treatment strategies for this condition.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic approaches for managing Myotonic Dystrophy Type 2.
How similar studies have gone: While the specific approach of this research is novel, previous studies have shown success in understanding genetic disorders through similar molecular mechanisms.
Where this research is happening
-
California State University San Marcos
San Marcos, United States Active
Researchers
- Principal investigator: Kim, Jane C — California State University San Marcos
- Study coordinator: Kim, Jane C
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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.