UPDATE : Friday, July 10, 2020
New SW diagnoses rare diseases in infants swiftly
  • By Shim Hyun-tai
  • Published 2020.05.28 18:18
  • Updated 2020.05.28 18:18
  • comments 0

Korean researchers have developed a software program, which can rapidly diagnose rare infant diseases that had taken an average of five years to find, and showed excellent performance in clinical trials since August last year.

The artificial intelligence-based software, called “Dr. Answer,” is composed of 21 smaller software concerning eight major diseases -- rare genetic disorders in childhood, cardio-cerebrovascular illness, dementia, heart disease, breast cancer, colorectal and prostate cancer, and epilepsy.

Professor Eun Baik-lin of the Department of Pediatrics at Korea University Guro Hospital

The research team, led by Professors Eun Baik-lin of Korea University Guro Hospital and Professor Lee Beom-hee of Asan Medical Center, conducted genetic testing with Dr. Answer on a boy who could not raise the head or crawl until the age of three, and it diagnosed the kid as having congenital myasthenia.

After the diagnosis, neurotransmitter was injected into the boy, and he could lift his head up and crawl in one month.

Dr. Answer could also diagnose a very rare form of recessive genotype Segawa syndrome in a one-year-old girl who could not raise her head as well due to severe developmental delay. After the diagnosis, the girl received dopamine, and could also raise her head and begin to stand up in a month.

In the case of these rare diseases in children, about 1,800 genes are known to induce developmental disorders, making it difficult to carry out effective genetic testing on thousands of developmental disorders with existing test methods.

The researchers said Dr. Answer found the strongest causative genes of developmental delays in minutes by simplifying the vast genetic data of the patients with a development disorder.

“Accurate diagnosis of rare pediatric diseases required several repetitive tests for years, but Dr. Answer can identify the disorder in a very short time,” Professor Eun said.


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