Scientists work on list of hereditary diseases typical for Arctic peoples

They will make more accurate forecasts related to the human health conditions, prevention and control of such diseases, consequent disabilities and mortality both in Russia’s North-East and Arctic and in other regions

YAKUTSK, September 22. /TASS/. Experts of the North-Eastern Federal University in Yakutsk began putting together a list and a bio bank of the Arctic people’s hereditary diseases, the university’s leader of the Molecular Medicine and Human Genetics Laboratory, MD Nadezhda Maksimova, told TASS.

The project has won the Russian Ministry of Science and Higher Education’s competition among university scientific laboratories.

“Our laboratory, jointly with the medical-genetic center at the national medical center – regional hospital number 1, has been working on a registrar of hereditary and congenital pathology in the peoples of Arctic and Russia’s North-East, which will have a bio bank of annotated biology samples of all the patients with hereditary diseases and their families. The bio bank will be used to study the gene fund of the peoples in Russia’s North-East and Arctic,” the expert said, adding the project’s territory unites Yakutia and Chukotka.

The project’s task is to find solutions for the fundamental problems in medical genetics, which are related to studies into hereditary diseases. Scientists will make more accurate forecasts related to the human health conditions, prevention and control of such diseases, consequent disabilities and mortality both in Russia’s North-East and Arctic and in other regions.

The project’s results will be used in solving applied tasks of the medical genetics, scientists say. Experts plan to find new pathogenic mutations, nosological forms of monogenic hereditary diseases in Russia’s North-East and Arctic, their spread and prevalence per 100,000 people and reasons of high concentrations in a population. Scientists also plan to compare the data on Russia with the data on other countries.

Genetic screening program

In addition to the registrar and the bio bank, under this project scientists will offer and implement a program of regional screening to identify seven most popular genetic diseases.

“We suggest organizing a prenatal screening in the region,” the expert continued. “Presently, we conduct this screening jointly with the medical-genetic center at the national medical center – regional hospital number 1 without any special program and without additional financing. This year, for example, we have made about 2,000 tests. The current demand however is 10-15 thousand tests a year.”

The program could be supported by the North – Sustainable Development Territory scientific-educational center, which is being organized in Yakutia. “We expect the program will be supported by investors and the state, since it carries out a socially important task – a healthy genetic population of the Arctic,” the scientist added.

According to her, Canada, for example, has been offering the reproductive molecular-genetic screening. Couples or families undergo the test depending on national or ethnic origins. However, such screening programs could be done only if populations have been studied thoroughly.

“In our population this could be done, since we have major mutations, as they are called, which means the mutations are often. Thus, it could be effective. We could make sets focusing on our objectives,” she told TASS.

Rare disorders

Scientists have registered seven rare genetic disorders in the Yakuts. Every year appear up to 15 babies with such disorders. One of the diseases is tyrosinemia. “The treatment is well known, but it is expensive. A treatment program for a baby with such a disorder costs more than one million rubles ($13,700) a year. The disease is very serious, the child dies without treatment.”

Another ethno-specific genetic disorder is the SOPH syndrome, which causes stunting with atrophy of the optic nerves, the 3M syndrome – the so-called Yakut stunting syndrome, the congenital deafness of the first A-type and hereditary methemoglobinemia, lipofuscinosis neuronal ceroid of the 6th type with a fatal outcome in childhood.

Scientists know another hereditary disease, which affects metabolism (in this case, the metabolism means a process at the cellular level – not to be confused with metabolism in the entire body). In joint research by the North-Eastern Federal University (NEFU) and the Osaka University (Japan), which has been conducted since 2013, experts have identified a gene responsible for a disorder which develops in early childhood and leads to high infant and child mortality. Later, the described disease was named the mucopolysaccharidosis-plus syndrome.

The Russian university’s scientists in 2017 presented a bio chip for immediate identification of five hereditary disorders, typical for Yakutia. One blood drop is sufficient for a test. Under the classical method, the test processing takes about 48 hours, and with the bio chip results are available in just four hours. The bio chip is also cost-effective.

NEFU’s laboratory

The Molecular Medicine and Human Genetics Laboratory at the NEFU’s Medical Institute was opened in January 2020 not only for studies but for better training of specialists in medical genetics with the objective to improve life quality by using high medical technologies, and by complex clinical and epidemiological and molecular-genetic studies of hereditary disorders.

The laboratory analyzes major factors of population dynamics (gene drift, mutations, inbreeding, migration), clinical and molecular genetic features of hereditary diseases, their genetic epidemiology and gene geography. Its experts apply integrated approaches, which include modern methods in medical genetics studies, such as population-based, clinical and genealogical, diagnostic, demographic, molecular-genetic, and bioinformatics.

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