Imagine facing this: You’ve been ill for months, and no doctor can determine the cause. Countless hospital visits and exams do not produce any tangible results. The very idea seems ludicrous to many, but for the few living with a rare disease, it’s all too real.
According to the Genetic and Rare Disease Information Center, there might be as many as 7000 rare diseases, with the total number of Americans living with a rare disease estimated to be as high as 30 million.
But a technique using computer-aided facial analysis could lend a hand in diagnosing at least 1 rare disease. A group of researchers at the University Hospital Bonn and the Charité Universitätsmedizin in Berlin, Germany, used artificial intelligence (AI) image analysis to identify patients with GPI anchor deficiencies and presented their findings in a paper published this month in the journal Genome Medicine.
Using data on genetic material of cells, surface texture, and typical facial features, researchers employed artificial intelligence methods to simulate disease models of Mabry syndrome, a condition featuring intellectual disability. The technology could serve for diagnosis in other diseases as well, researchers said.
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