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Researchers from more than one country have managed to develop a computer program capable of identifying rare genetic diseases in humans through its photoreceptor. The researchers presented the program in the latest issue of the journal Nature Medicine and called it "deep shape". According to them, the program could identify more than 200 diseases, most of which are rare syndromes.
According to its developers, it is possible to identify the possible genetic causes of the disease, allowing a quick diagnosis, according to Peter Kravets, a program development participant, from the University Hospital Bonn in Germany. At the same time, however, the researchers noted that their program had many other capabilities.
Between 2 and 8% of people suffer from a rare gene-related syndrome, he said. One-third to one-half of these illnesses coincide with mental retardation, which already appears in childhood, and because of the large number of potential syndromes and their scarcity, getting a diagnosis takes a lot of time and is expensive.
The Deep Shape program examines face facial images for visible and distinctive symptoms of certain diseases, including the shape of the eyes, mouth and chin, and the distance between the eyebrows. The network of artificial neurons, a technique similar to that of the brain, reproduces motifs, including 130 facial points, corresponding to the syndrome 216.
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