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WSJ: Patients Turn to Face2Gene and Mayo Clinic AI to Crack Rare Disease Mysteries

Summary

The Wall Street Journal reports that patients, families, and clinicians are turning to AI tools like Face2Gene — which analyzes facial features to flag genetic disorders — and Mayo Clinic's AI ECG system, which recently spotted cardiac amyloidosis in patients whose symptoms could have pointed elsewhere. One profiled parent used Face2Gene to identify trichorhinophalangeal syndrome in her son and then herself. The piece stresses AI should augment, not replace, clinical judgment given how few training records exist for the rarest conditions.

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