23 Jun 2026
Korea Biomedical Review
“Professor Yoo Han-wook describes AI as a force multiplier in rare disease care, one that strengthens clinicians rather than replacing their judgment. He recalls first encountering Face2Gene at an ACMG meeting more than a decade ago, when it was already being used to differentiate challenging rare disease cases.”
The article describes how AI is reshaping rare disease diagnosis and orphan drug development, with Professor Yoo Han-wook of CHA Bundang Medical Center framing it as a force multiplier for clinicians rather than a replacement for clinical judgment. Face2Gene uses facial phenotyping to help clinicians prioritize possible syndromes and guide testing decisions earlier. FDNA has been building in this space for over a decade, reflecting the staying power of AI-driven phenotyping in genetics.
