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May 25, 2022
Science and Medical

Face-Scanning AI Identifies Rare Genetic Disorders

Deep learning algorithms spot genetic disorders better than doctors can by analyzing a patient’s facial features

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The photograph is cropped close on the face of four-year-old Yael, who is smiling and looking as healthy as can be. But a computer analysis of her features says something’s not right. She has MR XL Bain Type, the computer predicts—a very rare syndrome that causes a wide range of health problems.

It turned out that the computer was right. 

Yael is one of thousands of children who have contributed to the development of an artificial intelligence system called DeepGestalt that can identify rare genetic disorders based on facial features alone. The system, built by Boston-based FDNAanalyzes photographs of faces using computer vision and deep learning algorithms. 

In an article published this week in the journal Nature Medicine, FDNA announced the results of a study of DeepGestalt involving 17,000 children, with more than 200 different syndromes among them. The system outperformed clinicians’ ability to identify disease in three separate experiments.

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