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OpenAI AI Diagnoses 18 Rare-Disease Cases at Boston Children’s Hospital

6/19/2026

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Summary

Story summary

Boston Children’s Hospital used OpenAI’s o3 model, funded by OpenAI, to re-examine 376 undiagnosed rare-disease genomes, diagnosing 18 children.
The AI added 10 neurodevelopmental, four neuromuscular, two sudden-death and two psychosis diagnoses, a 5% yield cited by Catherine Brownstein of the Manton Center.
Kyra Benton was diagnosed with myofibrillar myopathy after 15 years thanks to the AI.

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Story summary

Boston Children’s Hospital used OpenAI’s o3 model, funded by OpenAI, to re-examine 376 undiagnosed rare-disease genomes, diagnosing 18 children.
The AI added 10 neurodevelopmental, four neuromuscular, two sudden-death and two psychosis diagnoses, a 5% yield cited by Catherine Brownstein of the Manton Center.
Kyra Benton was diagnosed with myofibrillar myopathy after 15 years thanks to the AI.