Identifying genetic repeat expansions linked to various diseases
Official title: Development and application of new tools to identify repeat expansions in human diseases
Funded at Baylor College of Medicine · NIH-11005302 · Data updated 2026-11-12
This study is looking at how certain repeated DNA sequences might play a role in over 30 rare diseases, and it's designed for patients who want to learn more about their conditions and potential new treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | January 1, 2024 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $249,000 |
| NIH project number | 5R00HG011467-04 |
| Project ID | NIH-11005302 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with rare diseases caused by tandem repeat expansions or those with complex diseases where these genetic factors may play a role.
✕Less likely to help
Patients with diseases not associated with tandem repeat expansions are unlikely to benefit from this research.
What this research studies
This research focuses on understanding how expansions of repetitive DNA sequences, known as tandem repeats, contribute to over 30 rare diseases. By developing new bioinformatics tools, the project aims to catalog these repeat expansions and explore their effects on gene expression and cell function. The research will involve training in bioinformatics and human genetics to enhance the understanding of these genetic factors in complex diseases. Patients may benefit from the identification of new therapeutic targets that could arise from this work.
Why it matters
Potential benefit: If successful, this research could lead to the development of new treatments targeting genetic repeat expansions in various diseases.
How similar studies have gone: Previous research has shown success in identifying genetic factors in diseases, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Erwin, Graham Scott — Baylor College of Medicine
- Study coordinator: Erwin, Graham Scott
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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.