descriptionLong TextFor many families living with a rare disease, the hardest part is not having a name for what is happening. Even with modern genetic testing, about half of people with rare diseases remain undiagnosed.
In this OpenAI Forum conversation, researchers from Boston Children’s Hospital's Manton Center for Orphan Disease Research discuss how they used OpenAI o3 Deep Research to reanalyze difficult pediatric cases and surface new leads for expert review. The conversation explores how AI can help scientists move faster, give families a better chance at answers, and support advanced medical research, while keeping geneticists and clinicians at the center of diagnosis and care.
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