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The FDNA startup developers have updated the Face2Gene application and now it can identify rare genetic disorders by the child’s face.
As informs ferra.ru, the GestaltMatcher machine learning algorithm is capable of distinguishing about 1000 disease states. It is noted, that this algorithm appeared due to chance.
So, two families from Norway and Germany turned to doctors, due to the fact, that their sons had tremors, problems with growth, and also had an unusually triangular face. However, none of the tests performed could help diagnose their disease. After doctors in every country independently used gene sequencing, they discovered a new mutation in a gene called LEMD2. The GestaltMatcher algorithm was able to confirm the general diagnosis in boys and, as the developers note, “now we can work with disorders, that the system has not learned or has not instructed”.
The new GestaltMatcher algorithm was added to the Face2Gene application in February 2022.