Epigenetic clues to diagnose rare undiagnosed disorders
Official title: Identification of epigenetic etiologies for rare undiagnosed disorders
Funded at Baylor College of Medicine · NIH-11536778 · Data updated 2026-11-12
Researchers are looking at how epigenetic changes help explain rare diseases in children who still don’t have a clear genetic diagnosis.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | July 1, 2014 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $160,000 |
| NIH project number | 3U01NS134348-12S3 |
| Project ID | NIH-11536778 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and youth up to 11 years old who have undiagnosed or incompletely explained rare genetic or developmental disorders and are evaluated within the Undiagnosed Diseases Network framework.
✕Less likely to help
Some patients may not receive a new diagnosis if epigenetic causes are not identified in their specific case.
What this research studies
This project explores how DNA methylation and other epigenetic factors contribute to rare pediatric disorders. By combining clinical data, genomic information, metabolomics, transcriptomics, and animal models, the team aims to uncover epigenetic signatures that explain undiagnosed conditions. The goal is to shorten the diagnostic odyssey so families can get clearer answers and better-informed care plans.
Why it matters
Potential benefit: If successful, patients with undiagnosed rare diseases could receive faster and more accurate diagnoses and improved management strategies.
How similar studies have gone: Previous work within the UDN and related epigenetic research has yielded diagnostic insights in a subset of complex cases, but many conditions remain unsolved.
Where this research is happening
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Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Lee, Brendan — Baylor College of Medicine
- Study coordinator: Lee, Brendan
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.