AI helps diagnose genetic syndromes


EFE / London

Artificial intelligence (AI) can help identify rare genetic syndromes thanks to facial analysis technologies that highlight the phenotypes of hundreds of patients with genetic diseases and variations.

In addition to allowing an early diagnosis, the study by the FDNA company, leader in AI, emphasizes that the use of automated facial analysis in the detection of genetic disorders adds significant value to personalized care, which will contribute to improve the quality of treatment. life of the patient.

The research focuses on the use of a deep learning algorithm that uses and relates more than 17,000 facial images of patients whose diagnoses cover hundreds of different genetic syndromes.

Facial analysis technology captures, structures and analyzes complex human physiological traits and then stores them in a database of more than 150,000 patients.

Given the large number of possible genetic diseases, finding the right diagnosis is still a challenge for doctors, the authors said in a press release.

However, the FDNA technical director, Yaron Gurovich, stressed that the results of the study open the door for future research and applications, as well as the identification of new genetic syndromes.


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