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Aurora magazine

Artificial intelligence will help diagnose rare diseases

As we have said in more than one article, it is difficult to diagnose rare genetic diseases. Also for this reason, in recent years studies are underway to develop new prenatal screening and genetic tests. Scientists from the University of Bonn have developed artificial intelligence to facilitate the diagnosis of rare diseases.

The researchers used data from 679 patients with 105 diseases caused by variations in a single gene. The diseases used cause intellectual and physical disabilities; some of these cause obvious malformations. The developed software has collected and processed all patient data, including: characteristic features of the face; clinical symptoms; genetic data. At this point, they trained artificial intelligence using around 30,000 images of people with rare genetic diseases.

The software used facial analysis as a first filter, in order to concentrate subsequent analyzes on a limited range of pathologies. The results of the study are proving positive. The software allowed to solve some cases that had remained unanswered, improving the rate of diagnosis. Used systematically, the software could shorten the time and reduce the risk of misdiagnosis. In this way it would be easier to intervene quickly and offer a better quality of life to patients.