Rare Disease Diagnosis with Medical Imaging AI: The Next Frontier of Precision Medicine
From overlooked imaging phenotypes to multimodal, human-guided precision diagnosis Author: Dr. SB Lee Introduction: When the Image Contains the Diagnosis but the Pattern Is Too Rare to Recognize A rare disease does not necessarily produce a rare image. That distinction may become one of the most important concepts in the future of Medical Imaging AI. A patient with an uncommon genetic, metabolic, neuromuscular, skeletal, vascular, or multisystem disorder may undergo the same computed tomography (CT), magnetic resonance imaging (MRI), ultrasound, radiography, or positron emission tomography (PET) examinations performed for thousands of other patients. The difference is that the diagnostic signal may be distributed across multiple organs, subtle in appearance, incompletely documented in the clinical history, or recognizable only when several seemingly unrelated findings are considered together. This is where the traditional diagnostic model becomes vulnerable. The radiologist may identi...