Digital Twins for Rare Diseases

AI-driven models address data gaps in rare disease research and diagnostics

April 20, 2026
5 min

The Pathologist

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Gen Li, CEO of Phesi, highlights the transformative potential of digital twins in addressing the challenges faced in rare disease research. With over 72% of rare diseases being genetically linked and presenting significant variability in patient symptoms, digital patient profiles (DPPs) created using large datasets and AI offer new pathways for recruitment and trial design. By reducing diagnostic delays and enhancing data-driven decisions, digital twins can effectively support clinical development and overcome historical limitations, making them essential for future medical advancements.