AI tool guides Mayo clinicians to rapid treatment for newborn with ultra-rare disease

An AI system called the Biomedical Data Translator was used by doctors at the Mayo Clinic to search for a therapy for a newborn with an ultra-rare disease.

The infant, Jorie Kraus, was born with severe muscle weakness that affected her heart, limbs, voice box and breathing, requiring 73 days in a neonatal intensive care unit and continued developmental delays during her first two years.

The AI analysis identified a widely available medication that had not previously been linked to her condition, allowing clinicians to start treatment quickly. Within days the child showed dramatic improvement, gaining the ability to move, grasp objects and even attempt speech.

The parents described the turnaround at STAT’s Breakthrough Summit West in San Francisco, calling the effect “almost like a light switch.” The case highlights how data-driven tools can accelerate diagnosis and therapy for rare pediatric disorders.