UAE-developed AI platform aims to speed up diagnosis of rare diseases
Researchers at Khalifa University in Abu Dhabi have developed iGenRARE, an agentic AI platform intended to support doctors in diagnosing more than 7,000 rare diseases. The technology analyses information collected from a patient’s hospital visits and compares it with evidence from medical literature and specialist rare-disease databases. It then provides doctors with a ranked list of potential…
Researchers at Khalifa University in Abu Dhabi have created an agentic AI platform named iGenRARE to assist doctors in diagnosing over 7,000 rare diseases. The system evaluates patient data collected during hospital visits and compares it with evidence from medical literature and rare-disease databases. iGenRARE then offers doctors a ranked list of potential diagnoses, explains the supporting evidence, and suggests further tests to confirm or rule out a condition.
Assistant Professor Dr Aamna Al Shehhi, leading the project, explains that the platform aims to address the significant challenge of lengthy and often unsuccessful diagnostic journeys for patients with rare diseases. The agentic AI uses specialized agents to analyze symptoms, clinical notes, genetic variants, laboratory results, medical images, and scientific evidence, connecting the findings through a central reasoning system.
The platform ranks potential diagnoses based on probability and recommends additional investigations to confirm or rule out specific conditions. In tests using US medical data, iGenRARE achieved 68% accuracy after analyzing information from a patient's first hospital visit, increasing to 88% after examining data from the first two visits, and 91% after assessing the patient's entire hospital history.
The researchers now plan to conduct a silent clinical evaluation to compare iGenRARE's recommendations with clinicians' decisions and assess its accuracy and safety in real-life practice. The platform would be installed within the healthcare provider's secure infrastructure and could eventually be developed using only publicly available information.
The AI platform could also complement the Emirati Genome Programme by interpreting genetic variants alongside symptoms, disease progression, tests, and imaging. The next phase of iGenRARE will examine whether existing medicines could be repurposed to treat rare diseases and support more personalized treatment recommendations.
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