Click click snap: One look at patient's face, and AI can identify rare genetic diseases

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WASHINGTON D.C. [USA]: According to a recent study, a new artificial intelligence technology can accurately identify rare genetic disorders using a photograph of a patient's face. Named DeepGestalt, the AI technology outperformed clinicians in identifying a range of syndromes in three trials and could add value in personalised care, CNN reported. The study was published in the journal Nature Medicine. According to the study, eight per cent of the population has disease with key genetic components and many may have recognisable facial features. The study further adds that the technology could identify, for example, Angelman syndrome, a disorder affecting the nervous system with characteristic features such as a wide mouth with widely spaced teeth etc. Speaking about it, Yaron Gurovich, the chief technology officer at FDNA and lead researcher of the study said, "It demonstrates how one can successfully apply state of the art algorithms, such as deep learning, to a challenging field where the available data is small, unbalanced in terms of available patients per condition, and where the need to support a large amount of conditions is great."