Uploaded August 2026 | Updated September 2026, 3 weeks ago
For 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.
Join the OpenAI Forum to explore more conversations with experts working at the forefront of AI, science, and society: forum.openai.com
For 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.
Join the OpenAI Forum to explore more conversations with experts working at the forefront of AI, science, and society: forum.openai.com
