Using medical data and smart tools to speed diagnosis of rare diseases
Official title: Learning Precision Medicine for Rare Diseases Empowered by Knowledge-driven Data Mining
Funded at University of Texas Hlth Sci Ctr Houston · NIH-11127656 · Data updated 2026-11-12
This project builds a computer-based knowledge hub and data tools to help doctors diagnose people with rare diseases faster and more accurately.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas Hlth Sci Ctr Houston NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | September 6, 2023 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $693,989 |
| NIH project number | 5R01HG012748-03 |
| Project ID | NIH-11127656 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with unexplained symptoms or suspected rare genetic conditions who are evaluated at or referred to participating academic rare-disease programs would be most likely to benefit.
✕Less likely to help
Patients with common, well-understood conditions or those who cannot access participating medical centers are unlikely to benefit directly from this work.
What this research studies
My medical team is building RDAccelerate, a computable rare-disease knowledge hub that collects up-to-date findings from medical papers, gene databases, and clinical records. The researchers will use knowledge-driven data mining to connect new gene mutations and clinical clues that often do not appear in standard databases. Partners at Mayo Clinic and Vanderbilt will link the hub to real patient records and rare-disease programs to test how it supports clinical decision-making. The aim is to shorten the long delays many patients face before receiving an accurate diagnosis.
Why it matters
Potential benefit: If successful, this could shorten the diagnostic odyssey and help patients get accurate diagnoses and appropriate care sooner.
How similar studies have gone: Related clinical decision-support and literature-mining tools have shown promise in finding rare-disease clues, but a fully integrated, continuously updated rare-disease knowledge hub is still relatively novel.
Where this research is happening
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University of Texas Hlth Sci Ctr Houston
Houston, United States Active
Researchers
- Principal investigator: Liu, Hongfang — University of Texas Hlth Sci Ctr Houston
- Study coordinator: Liu, Hongfang
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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.