The Genomic Medicine educational and research laboratory of the North-Eastern Federal University asserts that the innovative methodology allows to obtain the result within only four hours for five hereditary diseases that are most common among the population of Yakutia.
The researcher of the NEFU laboratory, Mira Savvina tells that earlier the detection of each disease required a separate testing and much more time. "The biochip is a glass slide on which genetic markers (oligonucleotides) are applied. We have selected the most common hereditary mutations among the Yakut ethnos from the existing base of our laboratory and those which are suitable for diagnosing in an innovative way,” – says the scientist. The biochip of the Yakut scientists includes the diagnosis of mutations characteristic of the Yakuts, causing such diseases as 3M Syndrome – dwarfism syndrome, SOPH syndrome, tyrosinemia, methemoglobinemia and congenital nonsyndromic deafness.
Collection of the base of hereditary mutations of the indigenous population of Yakutia was carried out by Yakut geneticists for more than ten years. Work on the chip itself took three years, and was part of the acquisition of the grant of the Federal Target Program, Research and development in priority areas of development of the scientific and technological complex of Russia.
"In plans, after obtaining all the patent documentation, to introduce new technologies into mass diagnostics, so that everyone can apply to the laboratory and check their genetic background,” - said geneticist Mira Savvina.
NEFU press service