What does medical genetics study

Genetics is a science that studies such properties of living organisms as heredity and variability. As is known, the main property of living nature that distinguishes it from inanimate is its ability to reproduce. Another important quality, called heredity, consists in repetition, that is, the ability to give birth to their own kind. On average, representatives of any species are more similar to their ancestors than to other individuals of the same species.

However, each species has a certain level of variability, because even siblings are not exact copies. Both these factors - heredity and variability - are studied by the biological science of genetics, which in turn consists of general sections and particulars. If the subject of studying the general sections of genetics are research on the basis of heredity, the analysis of DNA molecules, the structure of genes and their mutations, then private sections are devoted to the identification of general patterns in different species of living organisms.

Human genetics is the leading of private sections. Those directions that concern the pathologies of the individual are studied by medical genetics. The main task of this branch of science is to reveal the role of the genetic component in the occurrence and course of various diseases.

Diseases that medical genetics studies, are divided into proper hereditary and multifactorial. The first include chromosomal (caused by a change in the number of chromosomes or their structure) and gene (due to gene mutations) disease. If the mutation is present only in one gene, such a disease is called monogenic.

Multifactorial refers to ailments, to which there is a hereditary predisposition. This includes most known diseases of the individual. The appearance of such diseases in humans, in addition to unfavorable external influence, is exerted by the state of many genes, which can be counted in tens and hundreds.

Medical genetics as a science is designed to diagnose hereditary diseases, analyze their prevalence in different social and ethnic groups, advise patients and their families, carry out the prevention of hereditary ailments, and study the basics of the pathogenesis and etiology of such.

For the prevention of hereditary diseases, clinical genetics uses the basis of prenatal (i.e., prenatal) diagnosis. The task of physicians is the timely detection of all possible pathogenic factors and an assessment of the degree of risk of occurrence of certain diseases in the future baby, based on the state of health of potential parents. Therefore, it is especially important for a couple expecting a child or just planning a conception, to undergo a detailed examination of their own health condition and to identify all the risk factors. Including it is important to know and inform doctors about the hereditary diseases in the family (both in the future father's and mother's lines), etc.

In civilized countries, genetics and medicine function indissolubly. To be interested in the health of the future spouse (spouse) and the presence of hereditary diseases in the family is long before marriage. In a number of countries, a medical certificate is an obligatory document for registering a marriage.

In recent years, medical genetics has made a real breakthrough in its development. The main success was the decoding of the structure of the human genome, the identification of all genes and the determination of the molecular nature of most proteins. Now scientists are actively studying the relationship of different genes with specific diseases, which in the future promises the development of fundamentally new methods of treating hereditary diseases and preventing the development of those diseases to which a person is predisposed.

The task of any qualified physician is the timely identification of a patient with hereditary pathology, determining its nature and referring the patient to the appropriate medical genetic center.