Post by Boston Children's Hospital

“It felt very surreal at the time because I just didn’t expect to get an answer in my lifetime,” says Kyra, a 28-year-old who received a diagnosis for her rare disease after enrolling in a study where researchers used OpenAI’s o3 Deep Research tools to analyze de-identified clinical and genomic data from cases that had remained unsolved for years. Dr. Catherine Brownstein, senior author of the study, explains how these AI tools can help accelerate the diagnostic process while giving researchers more time for in-depth analysis, review, and scientific discovery. She also emphasizes that human expertise remains essential for leading the research, validating findings, and ensuring these tools are used effectively. Learn more about the study published last week in NEJM AI and featured on ABC News ⤵️