Using AI to improve diagnosis of rare diseases
Integration of Biomedical Ontologies with Deep Learning AI for Research and Diagnosis of Rare Diseases
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 ID | NIH-11015934 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with rare genetic disorders or those suspected of having such conditions.
Not a fit: Patients with common diseases or those whose conditions are well understood may not benefit from this research.
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 performed: 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, United States
- Clemson University — Clemson, United States (Active)
Researchers
- Principal investigator: Masino, Aaron J — Clemson University
- Study coordinator: Masino, Aaron J
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 below.