AI in Rare Disease Diagnosis: Reducing the Diagnostic Odyssey

Abstract

Patients with rare diseases often face prolonged diagnostic journeys due to limited expertise and data. AI is addressing this challenge by leveraging advanced pattern recognition and machine learning to identify rare conditions. This paper reviews AI’s role in analyzing clinical data, medical imaging, and genetic profiles to improve diagnostic accuracy and speed. It also discusses the need for collaborative data-sharing initiatives and the ethical implications of using AI for rare disease diagnosis.