Prevention and treatment of certain hereditary diseases. Principles, prevention and treatment of hereditary forms of pathology

Treatment of hereditary metabolic abnormalities. The increased interest of medical genetics in hereditary diseases is explained by the fact that in many cases, knowledge of the biochemical mechanisms of disease development makes it possible to alleviate the suffering of the patient. The patient is given enzymes that cannot be synthesized in the body or is excluded from the diet of foods that cannot be used due to the lack of enzymes necessary for this in the body. Diabetes mellitus is characterized by an increase in blood sugar concentration due to the lack of insulin, a pancreatic hormone. This disease is caused by a recessive mutation. It is treated by introducing insulin into the body.

However, it should be remembered that only the disease, i.e., the phenotypic manifestation of a harmful gene, is cured, and the cured person continues to be its carrier and can pass this gene on to his descendants. More than a hundred diseases are now known in which the mechanisms of biochemical disorders have been studied in sufficient detail. In some cases, modern microanalysis methods make it possible to detect such biochemical disorders even in individual cells, and this, in turn, makes it possible to diagnose the presence of such diseases in an unborn child based on its individual cells floating in the amniotic fluid of a pregnant woman.

Rh factor. One of the well-studied human characteristics is the blood group system. For example, consider the Rh blood system. The gene responsible for it can be dominant (designated Rh +), when a protein called the Rh factor is present in the blood, and recessive (designated Rh -), when the protein is not synthesized. If an Rh negative woman marries an Rh positive man, her child may also be Rh positive. At the same time, the Rh factor will be synthesized in the child’s body. Since the circulatory systems of the fetus and mother communicate, this protein will enter the mother's body. For the mother’s immune system, this protein is foreign, so she will begin to produce antibodies against it (remember § 4). These antibodies will destroy the fetal blood cells. Their breakdown products are toxic and cause poisoning of both the maternal body and the fetus. This may cause the death of the fetus or the birth of a child with severe mental retardation.

Clarification of the nature of inheritance of this blood system and its biochemical nature made it possible to develop medical methods that saved humanity from a huge number of annual child deaths.

Undesirability of consanguineous marriages. In modern society, consanguineous marriages (marriages between first cousins) are relatively rare. However, there are areas where, due to geographic, social, economic or other reasons, small populations have lived in isolation for many generations. In such isolated populations (so-called isolates), the frequency of consanguineous marriages, for obvious reasons, is much higher than in ordinary “open” populations. Statistics show that parents who are related have a probability of having children affected by certain hereditary diseases, or the incidence of early childhood mortality is tens and sometimes even hundreds of times higher than in unrelated marriages. Consanguineous marriages are especially undesirable when there is a possibility of spouses being heterozygous for the same recessive harmful gene.

Medical genetic counseling. Knowledge of human genetics allows us to predict the likelihood of having children suffering from hereditary diseases in cases where one or both spouses are sick or both parents are healthy, but the hereditary disease occurred in the ancestors of the spouses. In some cases, it is possible to predict the probability of having a second healthy child if the first one was affected by a hereditary disease.

As the biological and especially genetic education of the general population increases, parents or young couples who do not yet have children are increasingly turning to geneticists with questions about the magnitude of the risk of having a child affected by a hereditary anomaly. Medical genetic consultations are now open in many regional and regional centers of Russia.

In the coming years, such consultations will become firmly established in people’s everyday lives, just as children’s and women’s consultations have long been. The widespread use of medical genetic consultations plays an important role in reducing the incidence of hereditary diseases and saves many families from the misfortune of having unhealthy children. Thus, in the United States, thanks to a government-funded prevention program, the frequency of births of children with Down syndrome has noticeably decreased.

Concern for the cleanliness of the human environment, an uncompromising fight against pollution of water, air, and food products with substances that have mutagenic and carcinogenic effects (i.e., causing mutations or malignant degeneration of cells), careful testing for the “genetic harmlessness” of all cosmetics and medicines and household chemicals - all this is an important condition for reducing the incidence of hereditary diseases in people.

Why do you think parents who are closely related are more likely to have children affected by hereditary diseases?
What are the treatment options for hereditary diseases?
Do genes change when treating hereditary diseases?
Why are consanguineous marriages undesirable?
What is medical genetic counseling based on and what goals does it pursue?

Due to insufficient knowledge of the pathogenetic mechanisms of many hereditary diseases, and consequently the low effectiveness of their treatment, preventing the birth of patients with pathology is of particular importance.

Of primary importance is the exclusion of mutagenic factors, primarily radiation and chemical factors, including the influence of pharmacological drugs. It is extremely important to lead a healthy lifestyle in the broad sense of the word: regularly engage in physical activity and sports, eat rationally, and eliminate negative factors such as smoking, drinking alcohol, drugs, and toxic substances. After all, many of them have mutagenic properties.

Prevention of hereditary diseases includes a whole range of measures both to protect the human genetic fund by preventing exposure to chemical and physical mutagens on the genetic apparatus, and to prevent the birth of a fetus that has a defective gene that determines a particular hereditary disease.

The second task is especially difficult. To make a conclusion about the likelihood of having a sick child in a given married couple, you should know the genotypes of the parents well. If one of the spouses suffers from one of the dominant hereditary diseases, the risk of having a sick child in this family is 50%. If phenotypically healthy parents give birth to a child with a recessive hereditary disease, the risk of having a sick child again is 25%. This is a very high degree of risk, so further childbearing in such families is undesirable.

The issue is complicated by the fact that not all diseases appear in childhood. Some begin in adulthood, the childbearing period of life, such as Huntington's chorea. Therefore, this subject, even before the diagnosis of the disease, could have children, not suspecting that among them there might subsequently be patients. Therefore, even before marriage, it is necessary to know for sure whether a given subject is a carrier of a pathological gene. This is established by studying the pedigrees of married couples, a detailed examination of sick family members to exclude phenocopies, as well as clinical, biochemical and electrophysiological studies. It is necessary to take into account the critical periods during which a particular disease manifests itself, as well as the penetrance of a particular pathological gene. To answer all these questions, knowledge of clinical genetics is required.

Basic principles of treatment: exclusion or limitation of products, the transformation of which in the body in the absence of the necessary enzyme leads to a pathological condition; replacement therapy for an enzyme deficient in the body or a normal end product of a distorted reaction; induction of deficient enzymes. Great importance is attached to the factor of timeliness of therapy. Therapy should begin before the patient develops pronounced disorders in cases where the patient is still born phenotypically normal. Some biochemical defects may be partially compensated with age or as a result of intervention. In the future, great hopes are placed on genetic engineering, which means targeted intervention in the structure and functioning of the genetic apparatus, removing or correcting mutant genes, replacing them with normal ones.

Let's consider treatment methods:

The first method is diet therapy: excluding or adding certain substances to the diet. An example would be diets: for galactosemia, for phenylketonuria, for glycogenosis, etc.

The second method is the replacement of substances not synthesized in the body, the so-called replacement therapy. In diabetes mellitus, insulin is used. Other examples of replacement therapy are known: administration of antihemophilic globulin for hemophilia, gamma globulin for immunodeficiency states, etc.

The third method is mediometosis, the main task of which is to influence the mechanisms of enzyme synthesis. For example, the administration of barbiturates for Crigler-Nayar disease promotes the induction of the synthesis of the enzyme glucoronyl transferase. Vitamin B6 activates the enzyme cystathionine synthetase and has a therapeutic effect in homocystinuria.

The fourth method is the exclusion from the use of drugs, such as barbiturates for porphyria, sulfonamides for glucose-6-phosphate dehydrogenase.

The fifth method is surgical treatment. First of all, this applies to new methods of plastic and reconstructive surgery (cleft lip and palate, various bone defects and deformities).

Social and legal aspect of the prevention of certain hereditary diseases and congenital malformations in humans

State policy in the field of prevention of certain hereditary diseases and congenital malformations in humans is an integral part of the state policy in the field of protecting the health of citizens and is aimed at the prevention, timely detection, diagnosis and treatment of phenylketonuria, congenital hypothyroidism, adrenogenital syndrome and congenital malformations of the fetus in pregnant women .

State policy in the field of prevention of hereditary diseases and congenital malformations in humans specified in this law is based on the principles of protecting public health established by law.

In the field of prevention of hereditary diseases and congenital malformations in humans, the state guarantees:

a) accessibility for citizens to diagnose phenylketonuria, congenital hypothyroidism, adrenogenital syndrome, congenital malformations of the fetus in pregnant women;
b) free carrying out of the specified diagnostics in organizations of the state and municipal healthcare systems;
c) development, financing and implementation of targeted programs for organizing medical and genetic assistance to the population;
d) control of the quality, effectiveness and safety of preventive, therapeutic and diagnostic care;
e) support for scientific research in the development of new methods for the prevention, diagnosis and treatment of hereditary diseases and congenital malformations in humans;
f) inclusion of issues of prevention of hereditary diseases and congenital malformations in humans into state educational standards for the training of medical workers.
1. When implementing the prevention of hereditary diseases and congenital malformations in humans specified in this law, citizens have the right to:
- a) receiving timely, complete and objective information from medical workers about the need for preventive, therapeutic and diagnostic care, and the consequences of refusing it;
- b) receiving preventive care in order to prevent hereditary diseases specified in this law in offspring and the birth of children with congenital malformations;
- c) maintaining confidentiality of information about the state of health, diagnosis and other information obtained during his examination and treatment;
- d) free medical examinations and examinations in state and municipal institutions, health care organizations;
- e) free drug provision for phenylketonuria.
2. Citizens are obliged:
- a) take care and be responsible for their health, as well as the health of their offspring;
- b) if there are hereditary diseases in the clan or family that lead to disability and mortality, promptly contact the medical genetic service;
- c) follow medical instructions and recommendations to prevent the birth of children with hereditary diseases.

Responsibilities of medical workers

Medical workers are required to:

a) observe professional ethics;
b) keep confidential information about the presence of hereditary diseases in the patient;
c) carry out activities to diagnose, identify, treat phenylketonuria, congenital hypothyroidism, adrenogenital syndrome in newborn children, medical examination of newborns, as well as to diagnose congenital malformations of the fetus in pregnant women.

Zhitikhina Marina

This paper describes the causes and measures to prevent hereditary diseases in the village of Sosnovo-Ozerskoye

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Ministry of Education and Science of the Republic of Belarus

Municipal municipality "Eravninsky district"

MBOU "Sosnovo-Ozersk Secondary School No. 2"

Regional scientific and practical conference “Step into the future”

Section: biology

Causes and prevention of hereditary diseases

student of grade 9a, MBOU "Sosnovo-Ozerskaya Secondary School No. 2"

Supervisor: Tsyrendorzhieva Natalia Nikolaevna,

Biology teacher MBOU "Sosnovo-Ozerskaya Secondary School No. 2"

2017

Introduction ___________________________________________________2
Main part

Classification of hereditary diseases_______________________________________________3-8
Risk factors for hereditary diseases_____________8-9
Prevention measures _________________________________9-10
Family planning as a method of preventing hereditary diseases________________________________________________10-11
The situation regarding hereditary diseases in the village of Sosnovo-Ozerskoye. Survey results ___________________________________11-12

Conclusion_____________________________________________12-13
Used literature________________________________14

Introduction

In biology classes, I studied with interest the basics of genetic knowledge, mastered problem-solving skills, analysis and forecasting. I was especially interested in human genetics: hereditary diseases, the causes of their occurrence, the possibility of prevention and treatment.

The word “inheritance” creates the illusion that all diseases studied by genetics are passed on from parents to children, as if from hand to hand: what the grandfathers were sick with, the fathers will be sick with, and then the grandchildren. I asked myself: “Is this really what happens?”

Genetics is fundamentally the science of heredity. It deals with the phenomena of heredity that were explained by Mendel and his closest followers.

Relevance. A very important problem is the study of the laws by which diseases and various defects in humans are inherited. In some cases, basic knowledge of genetics helps people figure out whether they are dealing with inherited defects. Knowledge of the basics of genetics gives confidence to people suffering from diseases that are not inherited that their children will not experience similar suffering.

In this work it is set target – research into the causes of hereditary diseases. And also their prevention. Considering that this problem is widely studied in modern science and concerns many questions, the following questions have been posed: tasks:

study of the classification and causes of hereditary diseases;
get acquainted with risk factors and measures to prevent hereditary human diseases;
determining the value of genetic research for the prevention and treatment of hereditary diseases.;
conduct a survey among classmates.

Main part

Classification of hereditary diseases

Nowadays, a lot of attention is paid to human genetics, and this is primarily due to the development of our civilizations, with the fact that as a result of this, many factors appear in the environment surrounding a person that negatively affect his heredity, as a result of which mutations can occur, that is, changes in the genetic information of a cell.

Science still does not know all the hereditary diseases that occur in humans. Apparently, their number can reach 40 thousand, but scientists have discovered only 1/6 of this number. Apparently, this is due to the fact that many cases of genetic pathology are harmless and can be successfully treated, which is why doctors consider them non-hereditary. You should know that serious and severe hereditary diseases are relatively rare, usually the ratio is as follows: 1 sick person per 10 thousand people or more. This means that there is no need to panic in advance due to unfounded suspicions: nature carefully protects the genetic health of humanity.

Hereditary human diseases can be classified as follows:

Genetic diseases.They arise as a result of DNA damage at the gene level. These diseases include Niemann-Pick disease and phenylketonuria.
Chromosomal diseases . Diseases associated with an abnormality in the number of chromosomes or a violation of their structure. Examples of chromosomal disorders are Down syndrome, Klinefelter syndrome, and Patau syndrome.
Diseases with hereditary predisposition (hypertension , diabetes mellitus, rheumatism, schizophrenia, coronary heart disease).

The complexity and diversity of metabolic processes, the number of enzymes and the incompleteness of scientific data on their functions in the human body still do not allow the creation of a holistic classification of hereditary diseases.

First of all, you should learn to distinguish diseases defined as congenital from real hereditary diseases. Congenital is a disease that a person has from the moment of birth. As soon as a little person is born who is unlucky with his health, doctors can diagnose him with a congenital ailment, unless nothing misleads them.

The situation is different with hereditary diseases. Some of them are truly congenital, i.e. accompany a person from the moment of his first breath. But there are also those that appear only a few years after birth. Everyone is well aware of Alzheimer's disease, which leads to senile insanity and is a terrible threat for older people. Alzheimer's disease appears only in very old and even elderly people and is never observed in young people. Meanwhile, this is a hereditary disease. The defective gene is present in a person from the moment of birth, but for decades it seems to lie dormant.

Not all hereditary diseases are congenital, and not all congenital diseases are hereditary. There are many pathologies that a person suffers from from the very moment he is born, but which were not passed on to him from his parents.

Gene diseases

A gene disorder occurs when a person has a harmful mutation at the gene level.

This means that a small section of the DNA molecule encoding some substance or control has undergone undesirable changes.

some kind of biochemical process. It is known that gene diseases are easily transmitted from generation to generation, and this occurs exactly according to the classical Mendelian scheme.

They are implemented regardless of whether environmental conditions are conducive to maintaining health or not. Only when the defective gene is identified can it be determined what kind of lifestyle to lead in order to feel strong and healthy, successfully resisting the disease. In some cases, genetic defects are very strong and sharply reduce a person’s chances of recovery.

The clinical manifestations of genetic diseases are varied; no common symptoms have been found for all or at least most of them, except for those features that mark all hereditary diseases.

It is known that for one gene the number of mutations can reach up to 1000. But this number is the maximum that few genes are capable of. Therefore, it is better to take the average value of 200 changes per 1 gene. It is clear that the number of diseases should be much less than the number of mutations. In addition, the cells have an effective protective mechanism that eliminates genetic defects.

Initially, doctors believed that any mutation of 1 gene leads to only one disease, but then it turned out that this was incorrect. Some mutations of the same gene can lead to different diseases, especially if they are localized in different parts of the gene. Sometimes mutations affect only part of the cells. This means that some human cells have a healthy form of the gene, while others have a defective form. If the mutation is weak, then most people will not show it. If the mutation is strong, then the disease will develop, but will be mild. Such “weakening” forms of the disease are called mosaic; they account for 10% of gene diseases.

Many diseases with this type of inheritance affect reproductive abilities. These diseases are dangerous because they are complicated by mutations in subsequent generations. Weak mutations are inherited in approximately the same way as strong ones, but they do not appear in all descendants.

Chromosomal diseases

Chromosomal diseases, despite their relatively infrequent occurrence, are very numerous. To date, 1000 varieties of chromosomal pathology have been identified, of which 100 forms have been described in sufficient detail and have received the status of syndromes in medicine.

A balanced set of genes leads to deviations in the development of the organism. Often this effect results in intrauterine death of the embryo (or fetus).

In many chromosomal diseases, there is a clear connection between deviations from normal development and the degree of chromosomal imbalance. The more chromosomal material is affected by the anomaly, the earlier it is possible to observe signs of the disease and the more severe the disturbances in physical and mental development manifest themselves.

Diseases with a hereditary predisposition

They differ from genetic diseases in that for their manifestation they require the action of environmental factors and represent the most extensive group of hereditary pathologies and are very diverse. All this is due to the involvement of many genes (polygenic systems) and their complex interaction with environmental factors during the development of the disease. In this regard, this group is sometimes called multifactorial diseases. Even for the same disease, the relative importance of heredity and environment may vary from person to person. By genetic nature, these are two groups of diseases.

Monogenic diseases with hereditary predisposition- predisposition is associated with a pathological mutation of one gene. For its manifestation, predisposition requires the mandatory action of an external environmental factor, which is usually identified and can be considered specific in relation to a given disease.

The terms “diseases with hereditary predisposition” and “multifactorial diseases” mean the same thing. In Russian literature, the term multifactorial (or multifactorial) diseases is more often used.

Multifactorial diseases can occur in utero (congenital malformations) or at any age of postnatal development. Moreover, the older the individual, the greater the likelihood of developing a multifactorial disease. Unlike monogenic diseases, multifactorial diseases are common diseases. Most multifactorial diseases are polygenic from a genetic point of view, i.e. Several genes are involved in their formation.

Congenital malformations, such as cleft lip and palate, anencephaly, hydrocephalus, clubfoot, hip dislocation and others, are formed in utero at the time of birth and, as a rule, are diagnosed in the earliest periods of postnatal ontogenesis. Their development is the result of the interaction of numerous genetic factors with adverse maternal or environmental factors (teratogens) during fetal development. They are found in human populations for each nosological form infrequently, but in total - in 3-5% of the population.

Mental and nervous diseases, as well as somatic diseases, belonging to the group of multifactorial diseases, are polygenic (genetically heterogeneous), but develop in interaction with environmental factors in the postnatal period of ontogenesis in adult individuals. This group refers to socially significant common diseases:cardiovascular (myocardial infarction, arterial hypertension, stroke), bronchopulmonary (bronchial asthma, chronic obstructive pulmonary diseases), mental (schizophrenia, bipolar psychosis), malignant neoplasms, infectious diseases, etc.

Risk factors for hereditary diseases

Physical factors(various types of ionizing radiation, ultraviolet radiation).
Chemical factors(insecticides, herbicides, drugs, alcohol, some medications and other substances).
Biological factors(smallpox, chickenpox, mumps, influenza, measles, hepatitis, etc. viruses).

For multifactorial diseases, the following scheme of the reasons for their development can be proposed:

The transmission of multifactorial diseases in families does not comply with Mendelian laws. The distribution of such diseases in families is fundamentally different from monogenic (Mendelian) diseases.

The risk of developing the disease in a child depends on the health of the parents. So, if one of the parents of a sick child also suffers from bronchial asthma, the probability of developing the disease in the child ranges from 20 to 30%; if both parents are sick, it reaches 75%. In general, it is believed that the risk of bronchial asthma in a child whose parents have signs of atopy is 2-3 times higher than in those families in which parents do not have these signs. When comparing the descendants of healthy people and the descendants of patients with bronchial asthma, it turned out that the risk for a child to get bronchial asthma is 2.6 times higher if the mother is sick, 2.5 times higher if the father is sick, and 6.7 times higher if Both parents are sick. In general, the genetic risk for relatives in relation to a monogenic pathology is usually higher than in the case of a multifactorial one.

Prevention and treatment of hereditary diseases

Prevention

There are four main methods for preventing human hereditary diseases, and to understand them in more detail, let's look at the diagram:

So, the first method of preventing hereditary diseases– this is genetic normalization and exclusion of mutagens. It is necessary to conduct a strict assessment of the mutagenic hazard of environmental factors, to exclude drugs that can cause mutation, food additives, as well as unfounded x-ray studies.

The second, one of the most important methods of preventionhereditary diseases - this is family planning, refusal to marry blood relatives, as well as refusal to bear children with a high risk of hereditary pathology. Timely medical and genetic counseling of married couples plays a huge role in this, which is now beginning to actively develop in our country.

Third method is a prenatal diagnosis using various physiological methods, that is, warning parents about possible pathologies in their unborn child.

Fourth method – This is the control of gene action. Unfortunately, this is already the correction of hereditary diseases, most often metabolic diseases after birth. Diets, surgery or drug therapy.

Treatment

Diet therapy; replacement therapy; removal of toxic metabolic products; mediator effect (on enzyme synthesis); exclusion of certain medications (barbiturates, sulfonamides, etc.); surgery.

Treatment of hereditary diseases is extremely difficult; to be honest, it practically does not exist; you can only improve the symptoms. Therefore, the prevention of these diseases comes to the fore.

Family planning

Family planning includes all activities aimed at conceiving and giving birth to healthy and desired children. These activities include: preparation for a desired pregnancy, regulation of the interval between pregnancies, control of the timing of childbearing, control of the number of children in the family.

The age of parents trying to have a child is of great preventive importance. At some point, our body is too immature for this to grow full-fledged gametes. From a certain age, the body begins to age, the reason for which is the loss of its cells’ ability to divide normally. A preventive measure is to avoid childbearing before 19-21 years of age and after 30-35 years of age. Conceiving a child at an early age is dangerous mainly for the body of a young mother, but conceiving at a later age is more dangerous for the genetic health of the baby, as it leads to genetic, genomic and chromosomal mutations.

Monitoring includes non-invasive and invasive methods for prenatal diagnosis of diseases. The best way to examine the fetus today is ultrasound.

A repeat ultrasound is performed for the following indications:

1) during screening ultrasound, signs of pathology were identified;

2) there are no signs of pathology, but the size of the fetus does not correspond to the duration of pregnancy.

3) the woman already has a child who has a congenital anomaly.

4) one of the parents has hereditary diseases.

5) if a pregnant woman was irradiated within 10 days or acquired a dangerous infection.

It is very important for a woman who is preparing to become a mother to remember the following things. Regardless of the desire to have a child of a certain gender, in no case should you sharply limit the consumption of fruits and animal proteins - this is extremely harmful to the health of the mother. And in addition, shortly before pregnancy, you should reduce your consumption of seafood. However, diet and genetics of a pregnant woman is a special subject of research by geneticists.

Disease situation in the village of Sosnovo-Ozerskoye

During my research, I found out that in our village of Sosnovo-Ozerskoye, diseases with a hereditary predisposition are mainly common. These are like:

1) oncological diseases (cancer);

2) diseases of the cardiovascular system (hypertension);

3) heart disease (heart disease);

4) diseases of the respiratory system (bronchial asthma);

5) diseases of the endocrine system (diabetes mellitus);

6) various allergic diseases.

Every year the birth rate of children with congenital hereditary diseases is growing, but this increase is insignificant.

I conducted a survey among students in my 9th grade. 20 people took part in the survey. Each student had to answer three questions:

1) What do you know about your heredity?

2) Is it possible to avoid hereditary diseases?

3) What measures to prevent hereditary diseases do you know?

The test result showed that little is known about the concept of “heredity”. Just what we learned in biology class. And the test results are as follows:

15 (75%) people said they knew almost nothing about their heredity; 5 (25%) people answered that their heredity is good.
Everyone (100%) answered the second question that hereditary diseases cannot be avoided, because they are inherited.
12 (60%) people answered that it is necessary to lead a healthy lifestyle, 3 (15%) girls answered that it is necessary to plan to have children in the future, and 5 people found it difficult to answer the third question.

Based on the results of my research, I did conclusion, that the topic of heredity is very relevant. Wider study of this topic is needed. I'm glad to see how my classmates answered the third question about prevention. Yes, it is necessary to lead a healthy lifestyle, especially for pregnant women. Conduct prevention of smoking, drug addiction and drunkenness. It is also necessary to plan a family and the birth of future children. Pregnant women need to consult a geneticist.

Conclusion

Now I know that it is possible to inherit something unpleasant hidden in our genes - hereditary diseases that become a heavy burden for the patient himself and for his loved ones.

Whether it is diabetes mellitus, Alzheimer's disease or pathology of the cardiovascular system, the presence of hereditary diseases in the family leaves its mark on a person's life. Some try to ignore it, while others are obsessed with their family's medical history and genetics. But in any case, it is not easy to live with the question: “Will you comprehendWill I have the same fate?

The presence of hereditary diseases in a family often causes anxiety and concern. This can interfere with quality of life.

In their practice, genetic counselors encounter many people who consider themselves genetically doomed. Their job is to help patients understand their possible risk of developing inherited diseases.

Heart disease and many types of cancer do not have a clearly defined cause. Instead, they are the result of a combination of genetic factors, environment and lifestyle. Genetic predisposition to the disease is just one of the risk factors, like smoking or a sedentary lifestyle.

The results of my research confirm that hereditary predisposition does not always mean disease.

It is important to understand that a person is not born with a genetically predetermined fate, and human health largely depends on our lifestyle.

List of used literature

Pimenova I.N., Pimenov A.V. Lectures on general biology: Textbook. - Saratov: Lyceum, 2003.
Pugacheva T.N., Heredity and health. - Series “Family Medical Encyclopedia”, World of Books, Moscow, 2007.
Karuzina I.P. Biology. - M.: Medicine, 1972.
Lobashev M.E. Genetics-L.: Publishing house of Leningrad University, 1967
Krestyaninov V.Yu., Vainer G.B. Collection of problems on genetics - Saratov: Lyceum, 1998.

1. Treatment of hereditary diseases:

1. Symptomatic and pathogenetic - impact on the symptoms of the disease (the genetic defect is preserved and passed on to offspring):

1) diet therapy, which ensures the entry of optimal quantities of substances into the body, which relieves the manifestation of the most severe manifestations of the disease - for example, dementia, phenylketonuria.

2) pharmacotherapy (introduction of the missing factor into the body) - periodic injections of missing proteins, enzymes, Rh factor globulins, blood transfusions, which temporarily improves the condition of patients (anemia, hemophilia)

3) surgical methods - organ removal, damage correction or transplantation (cleft lip, congenital heart defects)

2. Eugenic measures - compensation for natural human shortcomings in the phenotype (including hereditary ones), i.e. improving human health through phenotype. They consist of treatment with an adaptive environment: prenatal and postnatal care of the offspring, immunization, blood transfusions, organ transplantation, plastic surgery, diet, drug therapy, etc. It includes symptomatic and pathogenetic treatment, but does not completely eliminate hereditary defects and does not reduce the number of mutant DNA in the human population.

3. Etiological treatment - impact on the cause of the disease (should lead to a radical correction of anomalies). Not currently developed. All programs in the desired direction of fragments of genetic material that determine hereditary anomalies are based on the ideas of genetic engineering (directed, reverse induced mutations through the discovery of complex mutagens or the replacement of a “sick” chromosome fragment in a cell with a “healthy” one of natural or artificial origin)

2. Prevention of hereditary diseases:

Preventive measures include medical genetic consultations, prenatal diagnosis and medical examination. In many cases, specialists can indicate to parents the likelihood of having a child with certain defects, chromosomal disease or metabolic disorders caused by gene mutations.

Medical genetic counseling. The tendency towards weight gain due to hereditary and genetically determined pathologies is quite clearly expressed. The results of population studies in recent years have shown that on average 7-8% of newborns are diagnosed with some kind of hereditary pathology or developmental defects. The best method of curing a hereditary disease would be to correct the pathological mutation by normalizing the chromosomal or gene structure. “Reverse mutation” experiments are carried out only in microorganisms. However, it is possible that in the future genetic engineering will correct the mistakes of nature in humans. So far, the main way to combat hereditary diseases is to change environmental conditions, as a result of which the development of pathological heredity becomes less likely, and prevention through medical genetic counseling of the population.

The main goal of medical genetic counseling is to reduce the incidence of diseases by limiting the appearance of offspring with hereditary pathologies. And for this it is necessary not only to establish the degree of risk of having a sick child in families with a family history, but also to help future parents correctly assess the degree of real danger.

The following are subject to referral to medical genetic consultation:

1) patients with hereditary diseases and members of their families;

2) members of families in which there are repeated cases of illness of unknown cause;

3) children with developmental defects with suspected chromosomal disorders;

4) parents of children with established chromosomal disorders;

5) spouses with repeated spontaneous abortions and infertile marriages;

6) patients with disorders of sexual development

7) persons wishing to marry if one of them or one of their relatives suffers from hereditary diseases.

In a medical genetic consultation, the patient is examined and a family pedigree is compiled. Based on the data obtained, the type of inheritance of this disease is assumed. In the future, the diagnosis is clarified either by studying the chromosome set (in a cytogenetic laboratory), or with the help of special biochemical studies (in a biochemical laboratory).

For diseases with a hereditary predisposition, the task of medical genetic counseling is not to predict the disease in the offspring, but to determine the possibility of developing this disease in the patient’s relatives and develop recommendations if treatment or appropriate preventive measures are necessary. Early prevention, aimed at eliminating harmful factors that provoke the development of the disease, is of great importance, especially with a high degree of predisposition. Diseases for which such preventive measures are effective primarily include hypertension with its complications, coronary heart disease and strokes, peptic ulcers, and diabetes mellitus.

The relevance of the prevention of hereditary diseases

According to WHO, 2.5% of babies are born with developmental defects. Only 1.5–2% of them are associated with exogenous factors (TORCH complex infections, ionizing radiation, taking certain medications, etc.), the rest are due to genetic reasons.

Among the genetic factors in the development of defects and diseases, 1% are gene mutations, 0.5% are chromosomal mutations, 3–3.5% are diseases with a pronounced hereditary component (coronary artery disease, diabetes mellitus, atherosclerosis). In 40–50% of child deaths, the cause is a hereditary factor. 30% of children's hospital patients suffer from diseases associated with genetics.

Prevention of hereditary diseases comes down to medical genetic counseling and prenatal diagnosis. It reduces the risk of having a child with diseases caused by genetics.

Prevention of hereditary diseases

A person's chances of contracting a particular disease depend on what genes he inherited from his parents. There are pathologies that fully or significantly depend on hereditary factors. Methods of targeted prevention of hereditary diseases are their early diagnosis and determination of the individual risk of developing a particular genetically determined disease.

According to the degree of risk, hereditary diseases are divided into:

those with a high degree of genetic risk (pathologies of autosomal dominant, autosomal recessive origin and with a sex-linked type of inheritance);
diseases with a moderate degree of genetic risk (caused by fresh mutations, as well as chromosomal diseases with a polygenic type of inheritance);
having negligible risk.

Prenatal diagnostic methods for the prevention of hereditary diseases

Prenatal diagnosis combines direct and indirect research methods. The first stage in the prevention of genetic diseases is the selection of women to undergo indirect prenatal diagnosis. Medical genetic counseling is required in the following cases:

pregnant woman age 35 years and older;
two or more miscarriages in early pregnancy;
presence of children with genetic disorders in the family;
monogenic diseases previously diagnosed in the family and in close relatives;
taking certain medications during pregnancy;
transmission of viral infections;
exposure of one of the future parents to radiation before conceiving a child.

In order to prevent genetic diseases, prenatal diagnosis uses methods such as ultrasound, biochemical screening (hormone analysis). Based on their results, invasive methods can be prescribed (chorionic biopsy, amnio-, placento- and cordocentesis), which are the second stage of diagnosis. You can undergo such examinations at the Genomed medical genetic center.

To prevent diseases and maintain health in general, it is important to follow the principles of a healthy lifestyle, regularly undergo preventive examinations, treat diseases in a timely manner, and strengthen the immune system. Knowing your genetic risks, you can adjust your lifestyle to prevent the development of the disease.