Using AI to improve diagnosis of rare diseases
Official title: Integration of Biomedical Ontologies with Deep Learning AI for Research and Diagnosis of Rare Diseases
Funded at Clemson University · NIH-11015934 · Data updated 2026-11-12
This study is working to make it easier and faster for people with rare genetic disorders to get the right diagnosis by using advanced technology to look at their genetic and health information.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Clemson University NIH-funded |
| Lab location | 1 site (Clemson, United States) |
| Project start | February 10, 2021 |
| Project end | January 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $256,907 |
| NIH project number | 5P20GM139769-05 |
| Project ID | NIH-11015934 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with rare genetic disorders or those suspected of having such conditions.
✕Less likely to help
Patients with common diseases or those whose conditions are well understood may not benefit from this research.
What this research studies
This research aims to enhance the diagnosis of rare diseases by integrating biomedical ontologies with deep learning artificial intelligence. It focuses on analyzing genetic and phenotypic data to identify common characteristics among patients with rare genetic disorders. By leveraging large databases and advanced AI algorithms, the project seeks to improve the accuracy and speed of diagnoses, ultimately reducing the diagnostic odyssey faced by patients. The approach involves extracting and analyzing complex data from various sources to create patient-specific diagnostic pathways.
Why it matters
Potential benefit: If successful, this research could significantly improve the diagnostic rates and understanding of rare diseases, leading to better patient outcomes.
How similar studies have gone: Other research has shown promise in using AI and multiomic data to improve diagnosis in complex diseases, indicating that this approach could be effective.
Where this research is happening
-
Clemson University
Clemson, United States Active
Researchers
- Principal investigator: Masino, Aaron J — Clemson University
- Study coordinator: Masino, Aaron J
Related research
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EEG-based drug repurposing for rare CNS diseases
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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.