Basic concepts of medical genetics

Genetics is a science that studies heredity and hereditary variability.

Directly under heredity means the material carriers of heredity, the patterns of transmission of these material carriers of heredity in a succession of generations. These provisions ensure the reproduction of the existing diversity of life on Earth, the ability to direct and control the individual development of each individual, its ontogeny.

Consequently, the concept of heredity is multivalued. The concept of hereditary variability is also ambiguous, since it includes the patterns of the appearance of changes in hereditary material, the inheritance of these changes and their influence not only on the ontogenesis of the individual, but also on the population or even the species as a whole.

The development of genetics as a science originates from Mendel's work "Experiments on plant hybrids", published in 1865. The meaning of this work was that as a result of quantitative analysis of certain qualitative characteristics in peas, the scientist suggested the existence of elementary units of heredity that do not mix withother similar units and freely combinable in the formation of sex cells.

At present, the opinion that medical genetics constitutes the foundation of modern medicine and its importance in understanding the etiology and pathogenesis of any human pathology is growing quite legitimately.

In modern medicine, scientists increasingly pay attention to the fact that any pathological process has a certain molecular basis, and in the latter genes and( or) their products necessarily play an important role.

The most valuable medical genetics is in preventive medicine, since preventing the birth of a sick child in a family with hereditary pathology or even in the population as a whole through special measures is probably the most urgent goal of all medical research.

At the current level of development of genetics, the most valuable are the development of methods of gene therapy. Gene therapy involves the treatment of a wide variety, not only hereditary diseases, by introducing the gene to the patient, which plays a key role in the pathogenesis of the corresponding diseases. Thus, medical genetics to the prevention of hereditary diseases adds pathogenically correct methods of treatment and in this respect becomes a full component and the basis of modern medicine.

There is objective evidence that contributes to the importance of medical genetics. During the XIX-XX centuries.it was possible to develop effective methods to control many infectious diseases, and significant achievements were also made in the treatment of other diseases, in particular avitaminosis, which caused morbidity and mortality of hundreds of thousands of people.

According to many foreign and domestic researchers, in pediatric clinics almost 50% of beds are occupied by patients with hereditary diseases or diseases with hereditary predisposition.