Rare Disease Diagnosis with Medical Imaging AI: From Pattern Recognition to Precision Medicine
A patient may spend years searching for an answer that never arrives. Multiple hospital visits, repeated imaging examinations, inconclusive laboratory findings, and consultations across specialties often characterize the diagnostic journey of individuals with rare diseases. For many clinicians, the challenge is not a lack of expertise but the simple reality that some conditions are encountered only once—or never—during an entire career. This diagnostic uncertainty represents one of healthcare's most expensive and consequential blind spots. While advanced imaging modalities such as MRI, CT, PET, and ultrasound generate enormous volumes of anatomical and functional information, the subtle imaging signatures of rare diseases frequently remain hidden within datasets too complex for conventional interpretation alone. Recent advances in medical imaging and artificial intelligence are beginning to alter this landscape. Yet the true significance of AI extends beyond image classification. T...