Another typical Yakut hereditary disease
A deadly genetic disease has been discovered in Yakutia
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The head of the laboratory "Genomic Medicine" of the clinic of the Medical Institute of the Northeastern Federal University, Nadezhda Maksimova, told the Ogonek magazine about the discovery of a new genetic disease in Yakutia.
"We are just studying ... a new and very serious disease in which children live up to a maximum of three years due to irreversible metabolic disorders. Of the sixteen patients we found, two are alive today," the researcher said.
According to the publication, this is the third disease discovered by Maximova. In 2005, she identified SOPH syndrome (syndrome of stunting with optic nerve atrophy), and in 2010 - Z–M syndrome (another syndrome of stunting) in Yakuts.
As Maximova notes, genetic diseases often spread among isolated populations. The scientist found out that every hundredth inhabitant of Yakutia is a carrier of SOPH syndrome, and every 33rd is a Z-M syndrome.
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19.10.2015