Ethnic genomics and personalized medicine
Genomes, populations, diseases: ethnic genomics and personalized medicine
This was the title of the report retold below by the Deputy Director of the Research Institute of Medical Genetics of the Siberian Branch of the Russian Academy of Medical Sciences, Head of the Laboratory of Evolutionary Genetics, Doctor of Biological Sciences, Professor Vadim Anatolyevich Stepanov at the next meeting of the Presidium of the Siberian Branch of the Russian Academy of Medical Sciences.
In the modern world, the medicine of prognosis and molecular diagnostics will have the greatest prospect, which, based on the individual structure of the human genome and the peculiarities of the metabolic processes of his body, will be able to give the correct forecast regarding the possible development of certain diseases or pathological processes.
The Research Institute of Medical Genetics of the SB RAMS conducted research among various nationalities (ethnic groups), which showed that the genetic characteristics of an individual are largely determined by his belonging to a certain geographical region, ethnic group, population. Genetic diversity was formed during the settlement of modern humans under the influence of migrations, gene drift and abrupt changes in the effective population size.
Other studies have made it possible to characterize the level of genetic diversity of the Russian population both by conditionally neutral genetic markers and by genes of susceptibility to complex (multifactorial) diseases – diseases with hereditary predisposition. These include the largest group of diseases – peptic ulcer of the stomach and duodenum, bronchial asthma, diabetes mellitus, schizophrenia, epilepsy, etc. Multifactorial diseases are associated with the action of many genes, so they are called multifactorial or polygenic.
One of the main applications of personalized (individual) medicine is drug therapy. Pharmacogenetics seeks to identify genes and their variants that determine the adequacy of pharmacotherapy and reduce the risk of side effects. The research conducted by the Institute indicates a significant variability (differences) of the Russian population in the genes of biotransformation of drugs.
One of the important practical applications of data on the genetic diversity of populations by neutral markers is forensic medicine and criminology. For the first time, the characteristics of the populations of the Russian Federation are given by a panel of genetic markers used for DNA identification in the forensic medical examination of the Ministry of Internal Affairs of the Russian Federation.
The population-demographic mechanisms of the spread of a number of monogenic diseases among the indigenous peoples of Siberia are revealed; the differentiation of the population of the Russian Federation according to the genes of susceptibility to neuropsychic diseases is shown.
Based on the data obtained, approaches to the diagnosis and prevention of hereditary diseases in Yakutia are being developed. Thus, the population mechanisms of accumulation of some "Yakut" diseases, including the Yakut stunting syndrome, were identified.
Test systems for assessing the individual risk of developing a number of neuropsychic diseases are under development.
The data obtained are of great practical importance for the development of approaches to personalized genomic medicine, genetic diagnostics and testing, criminology and forensic medicine.
Portal "Eternal youth" http://vechnayamolodost.ru based on the materials of the newspaper "Science in Siberia"
08.12.2011