18 children had illnesses so rare doctors were stumped. AI gave them answers

OpenAI's o3 model helped diagnose 18 children at Boston Children's Hospital whose rare illnesses had stumped doctors, according to a study published in NEJM AI. The AI identified new diagnoses for patients with neurodevelopmental diseases, neuromuscular disorders, and other conditions, marking a breakthrough in medical diagnostics.

18 children had illnesses so rare doctors were stumped. AI gave them answers OpenAI’s o3 model can help find answers to the unsolved mysteries in the medical field, according to a new study - Bookmark - CommentsGo to comments Love it or hate it, artificial intelligence has been integrated into humans' everyday lives /tech/ai-artificial-intelligence-chatbot-advice-b2946507.html — and now, it might actually save lives. In the latest groundbreaking use of the controversial technology, AI /tech/ai-turing-test-artificial-intelligence-b2980452.html helped diagnose 18 children at a Boston /sport/football/tartan-army-traffic-cone-statue-world-cup-boston-b2998415.html hospital whose rare illnesses had stumped doctors. A new study published in the New England Journal of Medicine’s NEJM AI on Thursday found that OpenAI /news/elon-musk-openai-microsoft-google-tesla-b2982638.html ’s o3 model can help find answers to mysteries in the medical field. The AI model, which was released in April 2025, helped identify new diagnoses for patients at Boston Children’s Hospital, including 10 with rare neurodevelopmental diseases, four with neuromuscular disorders, two who had died suddenly and two with early psychosis. One of the study’s lead researchers, Catherine Brownstein, from the Manton Center for Orphan Disease Research at Boston Children’s Hospital, called it “a total game changer” in an NBC News https://www.nbcnews.com/tech/innovation/ai-boston-childrens-hospital-diagnose-rare-diseases-kids-openai-rcna350387 article about the study. The Manthon Center works to understand the cause of rare diseases, which affect 30 million people in the U.S. Brownstein explained that Boston Children’s Hospital screens the genomes of patients affected by rare diseases, which are their complete set of DNA, against newly identified genes in the hopes of a diagnosis. Finding a rare disease diagnosis is time-consuming, and as Suyash Shringarpure, another author of the study, put it, “A researcher can only spend so much time on a single case.” “Maybe a case remained unsolved when it came to them first, but a year later, a paper was published that clarifies the link between the gene and the disease,” Shringarpure, a researcher at OpenAI who focuses on the health sector, told NBC News. Researchers analyzed 376 genomes from undiagnosed patients with rare diseases, and the AI model identified nearly five percent of new diagnoses. “Considering how many times these had already been analyzed, that’s a huge number, and each one means an answer for a family,” Brownsterin said. Kyra Benton was one of the patients who was finally diagnosed with the help of AI. Benton started exhibiting concerning symptoms at nine years old, such as walking on her tiptoes and difficulty running with a normal gait, NBC News reported. For years, her health declined as doctors struggled to figure out what the root issue was. Just before she turned 20 years old last year, researchers finally diagnosed her with myofibrillar myopathy, a progressive genetic neuromuscular disorder. “Quite frankly, I’m the type of person that’s not all that much in favor of AI,” she told the outlet. “On the other hand, I do acknowledge that it does have its advantages.” OpenAI makes clear in its service terms that its technology should not be used for self-diagnosis. Researchers in the study used the AI model as a tool, feeding it additional information, including doctors’ notes, patients’ symptoms and genes that might be responsible for their symptoms. Humans then reviewed the model's answers for a final diagnosis. Join our commenting forum Join thought-provoking conversations, follow other Independent readers and see their replies Comments comments-area