{"id":716030,"date":"2026-06-20T19:16:13","date_gmt":"2026-06-20T19:16:13","guid":{"rendered":"https:\/\/www.newsbeep.com\/us\/716030\/"},"modified":"2026-06-20T19:16:13","modified_gmt":"2026-06-20T19:16:13","slug":"18-children-had-illnesses-so-rare-doctors-were-stumped-ai-gave-them-answers","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/us\/716030\/","title":{"rendered":"18 children had illnesses so rare doctors were stumped. AI gave them answers"},"content":{"rendered":"

Love it or hate it, artificial intelligence has been integrated into humans’ everyday lives<\/a> \u2014 and now, it might actually save lives.<\/p>\n

In the latest groundbreaking use of the controversial technology, AI<\/a> helped diagnose 18 children at a Boston<\/a> hospital whose rare illnesses had stumped doctors.<\/p>\n

A new study published in the New England Journal of Medicine\u2019s NEJM AI on Thursday found that OpenAI<\/a>\u2019s o3 model can help find answers to mysteries in the medical field.<\/p>\n

The AI model, which was released in April 2025, helped identify new diagnoses for patients at Boston Children\u2019s Hospital, including 10 with rare neurodevelopmental diseases, four with neuromuscular disorders, two who had died suddenly and two with early psychosis.<\/p>\n

One of the study\u2019s lead researchers, Catherine Brownstein, from the Manton Center for Orphan Disease Research at Boston Children\u2019s Hospital, called it \u201ca total game changer\u201d in an NBC News<\/a> article about the study.<\/p>\n

\"Artificial<\/p>\n

Artificial intelligence has helped diagnose 18 children at a Boston hospital whose rare illnesses had stumped doctors (AFP via Getty Images)<\/p>\n

The Manthon Center works to understand the cause of rare diseases, which affect 30 million people in the U.S.<\/p>\n

Brownstein explained that Boston Children\u2019s 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.<\/p>\n

Finding a rare disease diagnosis is time-consuming, and as Suyash Shringarpure, another author of the study, put it, \u201cA researcher can only spend so much time on a single case.\u201d<\/p>\n

\u201cMaybe 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,\u201d Shringarpure, a researcher at OpenAI who focuses on the health sector, told NBC News.<\/p>\n

Researchers analyzed 376 genomes from undiagnosed patients with rare diseases, and the AI model identified nearly five percent of new diagnoses.<\/p>\n

\u201cConsidering how many times these had already been analyzed, that\u2019s a huge number, and each one means an answer for a family,\u201d Brownsterin said.<\/p>\n

\"OpenAI\u2019s<\/p>\n

OpenAI\u2019s o3 model can help find answers to the unsolved mysteries in the medical field, according to a new study (Google Earth)<\/p>\n

Kyra Benton was one of the patients who was finally diagnosed with the help of AI.<\/p>\n

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.<\/p>\n

For years, her health declined as doctors struggled to figure out what the root issue was.<\/p>\n

Just before she turned 20 years old last year, researchers finally diagnosed her with myofibrillar myopathy, a progressive genetic neuromuscular disorder.<\/p>\n

\u201cQuite frankly, I\u2019m the type of person that\u2019s not all that much in favor of AI,\u201d she told the outlet. \u201cOn the other hand, I do acknowledge that it does have its advantages.\u201d<\/p>\n

OpenAI makes clear in its service terms that its technology should not be used for self-diagnosis.<\/p>\n

Researchers in the study used the AI model as a tool, feeding it additional information, including doctors\u2019 notes, patients\u2019 symptoms and genes that might be responsible for their symptoms.<\/p>\n

Humans then reviewed the model’s answers for a final diagnosis.<\/p>\n","protected":false},"excerpt":{"rendered":"Love it or hate it, artificial intelligence has been integrated into humans’ everyday lives \u2014 and now, it…\n","protected":false},"author":2,"featured_media":716031,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[45],"tags":[182,181,507,113310,151,308590,61226,76863,21450,9779,308589,7986,74],"class_list":["post-716030","post","type-post","status-publish","format-standard","has-post-thumbnail","category-artificial-intelligence","tag-ai","tag-artificial-intelligence","tag-artificialintelligence","tag-boston-childrens-hospital","tag-children","tag-controversial-technology","tag-nbc-news","tag-neuromuscular-disorders","tag-patients","tag-rare-diseases","tag-rare-illnesses","tag-researchers","tag-technology"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/716030","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=716030"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/716030\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/716031"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=716030"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=716030"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=716030"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}