Using machine learning to speed up the diagnosis of rare diseases
Official title: Development and implementation of statistical machine learning methods to shorten rare disease odysseys
Funded at Vanderbilt University Medical Center · NIH-11005059 · Data updated 2026-11-12
This study is working on a way to help people with rare diseases get diagnosed faster by using smart computer technology to pull important information from medical records, making it easier for doctors to find answers and treatments for patients.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project start | January 1, 2024 |
| Project end | December 31, 2025 |
| Funding year | 2025 |
| Award (this year) | $90,612 |
| NIH project number | 5K99LM014429-02 |
| Project ID | NIH-11005059 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals suffering from rare diseases who have experienced prolonged diagnostic delays.
✕Less likely to help
Patients with common diseases or those who have already received a timely diagnosis may not benefit from this research.
What this research studies
This research focuses on improving the diagnosis of rare diseases, which often take patients on long and difficult journeys to find answers. By utilizing advanced machine learning techniques, specifically natural language processing, the project aims to automatically extract important clinical information from electronic health records. This approach seeks to reduce the time it takes for patients to receive a diagnosis and find effective treatments, addressing the significant delays currently faced in the healthcare system. The research will also explore how to implement these new diagnostic tools effectively in clinical settings.
Why it matters
Potential benefit: If successful, this research could significantly shorten the time it takes for patients with rare diseases to receive accurate diagnoses and appropriate treatments.
How similar studies have gone: Previous research has shown promise in using machine learning for diagnostic purposes, indicating that this approach could lead to significant advancements in the field.
Where this research is happening
-
Vanderbilt University Medical Center
Nashville, United States Active
Researchers
- Principal investigator: Shyr, Cathy — Vanderbilt University Medical Center
- Study coordinator: Shyr, Cathy
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.