MODERN GENETICS AND PROSPECTS OF ITS DEVELOPMENT

Introduction

Genetics is one of the main, most exciting and at the same time complex disciplines of modern natural science. The place of genetics among biological sciences and special interest in it are determined by the fact that it studies the basic properties of organisms, namely heredity and variability.

As a result of numerous experiments in the field of molecular genetics, brilliant in their design and subtle in execution, numerous experiments in the field of molecular genetics have enriched modern biology with two fundamental discoveries that have already found wide reflection in human genetics, and in part have been carried out on human cells.

The first is the ability to work with isolated genes. It is obtained by isolating a gene in its pure form and synthesizing it. The significance of this discovery can hardly be overestimated. It is important to emphasize that different methods are used to synthesize a gene, i.e. there is already a choice when it comes to such a complex mechanism as a person.

The second achievement is proof of the inclusion of foreign information in the genome, as well as its functioning in the cells of higher animals and humans. Materials for this discovery have accumulated from various experimental approaches. First of all, these are numerous studies in the field of the virus-genetic theory of the occurrence of malignant tumors, including the detection of DNA synthesis on an RNA matrix. In addition, experiments with prophage transduction, stimulated by the idea of ​​genetic engineering, confirmed the possibility of genes functioning in simple organisms in mammalian cells, including human cells. These discoveries show the inextricable link between the success of human genetics and the success of modern biology, which is becoming more and more associated with genetics.

It can be said without exaggeration that, along with molecular genetics, human genetics is one of the most progressive sections of genetics in general. Her research extends from biochemical to population, to include cellular and organismal levels.

Genetics, genome and genetic load

The middle and second half of the 20th century were marked by a significant decrease in the frequency and even complete elimination of a number of infectious diseases, a decrease in infant mortality, and an increase in average life expectancy. In the developed countries of the world, the focus of health services has been shifted to combating chronic human pathology, diseases of the cardiovascular system, and oncological diseases.

It became obvious that progress in the field of medical science and practice is closely related to the development of general and medical genetics, biotechnology. The amazing achievements of genetics made it possible to reach the molecular level of knowledge of the genetic structures of the body, and inheritance, to reveal the essence of many serious human diseases, and to come close to gene therapy.

Clinical genetics has been developed - one of the most important areas of modern medicine, which is acquiring real prophylactic significance. It turned out that many chronic human diseases are a manifestation of a genetic load, the risk of their development can be predicted long before a child is born, and practical possibilities have already appeared to reduce the pressure of this load.

The genetic load includes, on the one hand, pathological gene mutations inherited from parents and grandparents, and are called the serration load, if recessive or non-lethal dominant gene mutations appear in the form of a disease (from the Latin segregatio - splitting).

On the other hand, a certain part of this load is made up of new, newly arisen gene mutations (as a result of mutagenic influences of the external environment). They are not traced in ascending generations and constitute the so-called mutational genetic load.

There are about 100000 genes in the human genome. Calculations show that about 10% of people develop new mutations caused by mutagenic effects of environmental factors (radiation background of the Earth, the effect of fuel combustion products, the influence of viruses, etc.). Undoubtedly, the frequency of mutations will be much higher in conditions of anthropogenic pollution of the external environment. Each person inherits at least 10 hidden mutations that are dangerous to health. In general, according to A. Knudson (1986), the value of the postnatal genetic load is 0.2 i.e. 20% of members of the population are likely to develop hereditary diseases (monogenic, polygenic, or associated with mutations in somatic cell genes).

The genetic burden manifests itself as infertility and spontaneous abortions, miscarriages and stillbirths, congenital defects and mental retardation. It determines the risk of hemolytic disease of newborns, manifestations of incompatibility between the mother and the fetus for a number of antigens.

The total frequency of monogenic hereditary diseases cannot yet be accurately estimated; it fluctuates depending on the level of diagnostic capabilities and is different in different ethnic groups. Separately taken monogenic hereditary diseases are rare, but given the colossal number of nosological forms, we can definitely say that hereditary diseases make a significant contribution to the general pathology of a person. In addition, according to G. Fanconi, rare diseases are rare as long as they are little known to us. In general, the total incidence of monogenic hereditary diseases in European populations can reach 10%, and at least 10% is accounted for by polygenically inherited diseases.

During 2016-2021, a lot of interesting things happened in the world of science and, in particular, in the world of biology. Genetic research is now a routine of modern laboratories, what science fiction writers wrote about before has become a reality. It is curious that today it is difficult to single out the "leading institute" or "the most advanced laboratory". Global themes require international cohesion. This is the only way mankind can get rid of the diseases considered incurable today.

One of the fathers of the DNA double helix, for which he won the Nobel Prize, James Watson said: "Stupidity is a disease and can be treated with gene therapy." But this is not enough, he promises to make all people beautiful. And if you collect all the promises, there is no doubt that the golden age, when there will be continuous Delons and Einshteins around, is not far off.

Achievements of genetics of the XXI century

The biggest breakthrough of the second decade of the 21st century. became the CRISPR / Cas9 system, for which its creators, Jennifer Doudna and Emmanuelle Charpentier, received the Nobel Prize in Chemistry in 2020. CRISPR / Cas9 is a high-precision genome editing method that allows you to change the genes of living microorganisms, including humans. And with its help there are chances to create methods of combating HIV and other diseases, which today sound like a sentence.

Scientists around the world began experimenting with CRISPR / Cas9, but the loudest (and at the same time important for the world) story took place in China. In 2018, genetically modified children were born - girls Lulu and Nana. The zygote was obtained using IVF (in vitro fertilization), genetically altered with CRISPR / Cas9 and implanted into the uterus of the woman who gave birth to the girls. It is possible to argue for a long time about the ethics of the experiment and the modification of people (in many countries, editing the genes of the embryo is prohibited due to unforeseen consequences for the gene pool), but it cannot be denied that the experiment is of great importance for science.

Prospects for the development of genetics

Modern medicine with the help of genetic research is capable of working miracles. Most hereditary genetic diseases today can be detected even at the stage of family planning, but even in the event of an unfavorable prognosis, any married couple is able to have healthy children. the lot of dysfunctional families. Each person carries his own set of genes, which mutates and changes during his life, and no one can predict when and how these changes will manifest.

Prevention and knowledge of your personal genetics will lead to the possibility of treating diseases at the earliest stages and a significant increase in a person's life expectancy.

The world is a few steps away from solving the problem of oncology and the birth of children with genetic pathologies, although there are many barriers along the way. Now the efforts of most companies in the MedTech and BioTech segment are focused on the study of the DNA sequence in cancer cells, their changes and the search for individual methods of therapy for a specific tumor. The first drugs began to appear on the market, and there will be more of them. It is possible that the technology of using genetically modified cells in medicine will be scaled up, and just as in the 20th century, antibiotics made more than a dozen fatal diseases curable, cancer and neurodegenerative diseases will also cease to sound like a sentence.

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