Mondo: a community knowledgebase to standardize disease definitions for better diagnosis
Official title: Mondo: A community consensus knowledgebase for computational disease definitions
Funded at Univ of North Carolina Chapel Hill · NIH-11597205 · Data updated 2026-11-12
A broad, collaborative effort to create a shared, computable map of diseases to help clinicians diagnose patients more accurately.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project start | August 1, 2026 |
| Project end | July 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $388,912 |
| NIH project number | 3U24HG014770-01S1 |
| Project ID | NIH-11597205 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients undergoing genomic sequencing or suspected of having rare or complex diseases could directly benefit from standardized disease definitions.
✕Less likely to help
Patients whose conditions are not genomically driven or where standard definitions do not impact clinical decisions may see limited benefit.
What this research studies
This grant supports building and maintaining a community-driven knowledgebase that links genes, diseases, and variants to create consistent disease definitions across care settings. By bringing together major databases and patient advocacy groups, it aims to standardize how diseases are described so that sequencing results can be interpreted more reliably. The resulting resource will help clinicians differentiate rare conditions from common ones and reduce diagnostic odysseys for patients. The work includes integrating evidence on gene-disease relationships, variant pathogenicity, and clinical actionability to support precision medicine.
Why it matters
Potential benefit: If successful, patients could receive faster, more accurate diagnoses and better-aligned treatment plans thanks to standardized disease definitions.
How similar studies have gone: Similar community knowledgebases have improved consistency in disease interpretation across institutions, though ongoing efforts are needed to harmonize definitions globally.
Where this research is happening
-
Univ of North Carolina Chapel Hill
Chapel Hill, United States Active
Researchers
- Principal investigator: Haendel, Melissa a — Univ of North Carolina Chapel Hill
- Study coordinator: Haendel, Melissa a
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.