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DeepGestalt: Detects genetic disorders from a photo

DeepGestalt: Genetic disorders often appear in someone's presentation. People with Noonan syndrome - a genetic condition that inhibits mental and physical development - are more likely to have larger eyes, for example, and those with Bain-type mental disorder caused by a mutated X chromosome gene, their eye shape is more marzipan.

If you are wondering why we are reporting this information, it is because researchers have now trained artificial intelligence to identify these characteristics, paving the way for early and inexpensive diagnoses through a smart device.


Scientists have created a computer program, DeepGestalt, and trained it in a public data set with more than 17.000 patient photos suffering from more than 200 rare disorders. The program then used deep learning to identify which marker patterns were associated with hundreds of different genetic syndromes.

The DeepGestalt won over doctors in diagnosing patients with Angelman syndrome and Cornelia de Lange syndrome - an inherited genetic mutation that can cause, among other symptoms, low-voltage ears and a slightly raised nose.

Sure is that DeepGestalt is just the beginning in a huge contribution technology in medicine.


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