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摘要: AI model helps some patients get diagnoses after years of uncertainty: Study
The team hopes its models can help patients get diagnoses for rare diseases.
Dr. Joshua Anthony
June 20, 2026, 5:02 ...
正文
AI model helps some patients get diagnoses after years of uncertainty: Study
The team hopes its models can help patients get diagnoses for rare diseases.
Dr. Joshua Anthony
June 20, 2026, 5:02 AM
An artificial intelligence (AI) model is helping some patients get diagnoses after years of unexplained illness, according to a new study.
Researchers from OpenAI and Boston Children's Hospital took the existing genetic data of 18 pediatric patients -- many now adults -- and reviewed it through a newly developed AI model, cracking cases that stumped doctors for years.
The team hopes its model will help thousands of American kids who are impacted. Researchers pointed out one in 10 Americans -- more than 30 million people, half of whom are children -- have a rare disease.
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The researchers believe their models may help diagnose the rarest diseases and also expedite diagnoses.
The study was published Thursday in the
New England Journal of Medicine
.
Stock photo of a doctor speaking with a patient.
Jacob Wackerhausen/STOCK PHOTO/Getty Images
For 28-year-old Kyra, one of the patients in the study, the ultra-rare diagnosis of Myofibrillar Myopathy (MFM) came after nearly two decades of uncertainty. MFM is a group of genetic disorders that causes progressive muscle weakness.
"It felt very surreal at the time because I just didn't expect to get an answer in my lifetime, and I think my family didn't expect it either," Kyra told ABC News.
Even though the condition is currently incurable, "we finally got that clarity and closure," she said. "At the very least it's nice to have a name."
The study does not suggest AI can replace doctors or genetic specialists. While the model proposed possible answers, experts made the final diagnosis and each diagnosis was confirmed by a certified clinical lab before families were told.
That distinction is important because AI too
采集时间: 2026-06-20 20:17:01
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