New UAE-Developed AI Platform iGenRARE Accelerates Rare Disease Diagnosis

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, providing a ranked list of potential diagnoses along with supporting evidence and recommended further tests.

Led by Dr Aamna Al Shehhi, assistant professor in biomedical engineering and biotechnology at Khalifa University, the system was designed to address the lengthy search for an accurate diagnosis that many patients face. Dr Al Shehhi noted that patients often spend five years or more searching for the correct diagnosis, during which time progressive conditions can worsen and opportunities for early treatment can be lost.

The platform utilises agentic AI, combining several specialised systems known as agents to assess symptoms, clinical notes, genetic variants, laboratory results, medical images, and published scientific evidence. A central reasoning system then connects these findings to rank potential diagnoses based on probability and suggest necessary follow-up investigations.

In retrospective evaluations using US medical data covering 20,238 patients, the model achieved 68 per cent accuracy using only a patient's first hospital visit, increasing to 88 per cent after two visits and reaching 91 per cent when assessing the entire hospital history. The team now plans to conduct a silent clinical evaluation, running iGenRARE in the background on real clinical cases without influencing patient care to evaluate its accuracy and safety in everyday practice.

To maintain privacy, the hospital version of iGenRARE is designed to be installed within the healthcare provider's secure infrastructure. Looking ahead, the researchers aim to complement initiatives like the Emirati Genome Programme and explore how AI could assist in drug repurposing and personalised treatment plans for rare disease patients.