Improving diagnosis and care for rare disorders using advanced technology
Official title: Increasing Diversity, Diagnostic Yield, and Efficiency in Clinical Evaluations of Rare Disorders
Funded at University of Alabama at Birmingham · NIH-10979683 · Data updated 2026-11-12
This study is looking to improve how we diagnose rare, chronic diseases by using advanced technology, and it's for patients who have been referred by their doctors to get better answers about their health and access to care.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $742,234 |
| NIH project number | 1U01NS139216-01 |
| Project ID | NIH-10979683 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include children and adults with chronic, undiagnosed diseases who have not found answers through traditional diagnostic methods.
✕Less likely to help
Patients with well-defined diagnoses or those whose conditions are not classified as rare may not benefit from this research.
What this research studies
This research focuses on enhancing the diagnostic process for individuals with rare, chronic diseases by utilizing advanced artificial intelligence methods. The University of Alabama at Birmingham's Undiagnosed Diseases Program will evaluate patients referred by their physicians, collecting and analyzing their medical histories and test results. Patients will have the opportunity to participate in evaluations that may include telemedicine appointments and consultations with specialists, aiming to provide clearer diagnoses and better care options. The program is designed to serve diverse populations, particularly those who have historically faced barriers to receiving modern diagnostic services.
Why it matters
Potential benefit: If successful, this research could lead to more accurate and timely diagnoses for patients with rare disorders, improving their overall health outcomes.
How similar studies have gone: Previous research has shown promise in using AI for diagnostic purposes, indicating that this approach could lead to significant advancements in the field.
Where this research is happening
-
University of Alabama at Birmingham
Birmingham, United States Active
Researchers
- Principal investigator: Korf, Bruce R — University of Alabama at Birmingham
- Study coordinator: Korf, Bruce R
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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.