Hereditary diseases pediatricians, neurologists, endocrinologists

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Hereditary diseases– a large group of human diseases caused by pathological changes in the genetic apparatus. Currently, more than 6 thousand syndromes with a hereditary transmission mechanism are known, and their overall frequency in the population ranges from 0.2 to 4%. Some genetic diseases have a specific ethnic and geographic prevalence, while others occur with equal frequency throughout the world. The study of hereditary diseases is primarily the responsibility of medical genetics, but almost any medical specialist can encounter such a pathology: pediatricians, neurologists, endocrinologists, hematologists, therapists, etc.

Hereditary diseases should be distinguished from congenital and family pathologies. Congenital diseases can be caused not only by genetic factors, but also by unfavorable exogenous factors affecting the developing fetus (chemical and medicinal compounds, ionizing radiation, intrauterine infections, etc.). At the same time, not all hereditary diseases appear immediately after birth: for example, signs of Huntington's chorea usually first appear at the age of over 40 years. The difference between hereditary and family pathology is that the latter may be associated not with genetic, but with social, everyday or professional determinants.

The occurrence of hereditary diseases is caused by mutations - sudden changes in the genetic properties of an individual, leading to the appearance of new, unusual characteristics. If mutations affect individual chromosomes, changing their structure (due to loss, acquisition, variation in the position of individual sections) or their number, such diseases are classified as chromosomal. The most common chromosomal abnormalities are duodenal and allergic pathology.

Hereditary diseases can appear both immediately after the birth of a child and at different stages of life. Some of them have an unfavorable prognosis and lead to early death, while others do not significantly affect the duration or even quality of life. The most severe forms of hereditary fetal pathology cause spontaneous abortion or are accompanied by stillbirth.

Thanks to the advances in medical development, about a thousand hereditary diseases today can be detected even before the birth of a child using prenatal diagnostic methods. The latter include ultrasound and biochemical screening of the I (10-14 weeks) and II (16-20 weeks) trimesters, which are carried out to all pregnant women without exception. In addition, if there are additional indications, invasive procedures may be recommended: chorionic villus biopsy, amniocentesis, cordocentesis. If the fact of severe hereditary pathology is reliably established, the woman is offered an artificial termination of pregnancy for medical reasons.

All newborns in the first days of their life are also subject to examination for hereditary and congenital metabolic diseases (phenylketonuria, adrenogenital syndrome, congenital adrenal hyperplasia, galactosemia, cystic fibrosis). Other hereditary diseases that were not recognized before or immediately after the birth of a child can be identified using cytogenetic, molecular genetic, and biochemical research methods.

Unfortunately, a complete cure for hereditary diseases is currently not possible. Meanwhile, with some forms of genetic pathology, a significant extension of life and ensuring its acceptable quality can be achieved. In the treatment of hereditary diseases, pathogenetic and symptomatic therapy is used. The pathogenetic approach to treatment involves replacement therapy (for example, with blood coagulation factors in hemophilia), limiting the use of certain substrates for phenylketonuria, galactosemia, maple syrup disease, replenishing the deficiency of a missing enzyme or hormone, etc. Symptomatic therapy includes the use a wide range of medications, physiotherapy, rehabilitation courses (massage, exercise therapy). Many patients with genetic pathology from early childhood need correctional and developmental classes with a speech pathologist and speech therapist.

The possibilities of surgical treatment of hereditary diseases are reduced mainly to the elimination of severe malformations that interfere with the normal functioning of the body (for example, correction of congenital heart defects, cleft lip and palate, hypospadias, etc.). Gene therapy for hereditary diseases is still rather experimental in nature and is still far from widespread use in practical medicine.

The main direction of prevention of hereditary diseases is medical genetic counseling. Experienced geneticists will consult a married couple, predict the risk of having offspring with hereditary pathology, and provide professional assistance in making a decision about childbearing.

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"We all stand on the shoulders of our ancestors."
African proverb

Lesson type: lesson on learning new material and consolidating acquired knowledge.

Objectives: developing knowledge about the hereditary nature of human diseases, their classification; causes and methods of treatment; systematization of knowledge about the laws of heredity, the laws of genetics; consolidation of skills in using genetic terms and symbols; the formation of a humane attitude towards people with health problems as full members of society, the development of students’ interest in modern scientific research on humans and the entire organic world.

• educational: expand knowledge about human biology, continue students’ assimilation of a system of knowledge about human diseases caused by heredity, the causes of hereditary diseases and the types of their inheritance, methods of prevention and treatment;
• educational: continue the formation of students’ scientific worldview, system of views and beliefs about the need to preserve their health; promote the development of professional orientation of students;
• developing - continue to develop students’ skills:
  • educational and intellectual: analyze facts, establish cause-and-effect relationships;
  • draw conclusions, highlight the main thing, compare, systematize, explain;
  • educational and informational: process the received information;
  • work with a textbook, create a culture of using information technology in individual and collective educational and cognitive activities;
  • educational and communicative: master oral and written language, respect the opinion of the interlocutor.
• Development of the emotional sphere: increasing interest in the subject, enhancing cognitive activity.

Teaching methods: explanatory-illustrative, partially search-based.

Equipment: computer, projector, screen.

Forms of organization of cognitive activity: individual, collective.

Lesson location: Section "Fundamentals of Genetics and Selection", chapter "Patterns of Variation", topic "Human Genetics" (lesson 2-3).

Lesson progress

I. Organization of the beginning of the lesson: organizational moment, greeting.

II. Introduction to the topic of the lesson.

Introductory conversation. Teacher: “In previous lessons we looked at methods for studying human heredity and their characteristics. Today in the lesson we will talk about hereditary human diseases. What diseases are called hereditary?” Presentation (slide 3).

Hereditary diseases have been known to mankind, apparently, since the time of Hippocrates, but their study began only in the 20th century after the rediscovery of Mendel's laws http://www.megabook.ru/Article.asp?AID=651034. During the first decades of the 20th century, evidence on the inheritance of pathological traits was accumulated and analyzed. The total number of hereditary diseases is enormous; to date, more than 6,000 of them have been identified, and approximately 1,000 of them today can be identified before the birth of a child.

Question: "Is there a difference between hereditary diseases, congenital diseases and developmental defects? What is it?" (answers to questions - Appendix 1).

Question: "Why is it necessary to study human hereditary diseases?"

Teacher: “For a better understanding of the new material, we need to rely on the terminology of previous topics. As the lesson progresses, you will be asked questions about your knowledge of terms. We will write down new concepts in notebooks. The first concept is “hereditary diseases.”

III. Learning new material.

1. Teacher: “There is no generally accepted classification of hereditary diseases yet. It has not yet been fully developed. In recent years, in connection with the significant successes achieved in studying the nature of a large number of hereditary diseases, all the prerequisites have arisen for the creation of a genetic classification. The basis of genetic The classification of hereditary diseases is based on an etiological principle, namely the type of mutations and the nature of interaction with the environment."

Let's look at the classification of hereditary diseases (slide 4) (students sketch a diagram in their notebooks)

2. Gene diseases (slide 5).

3. Monogenic diseases (slide 6).

Let's look at some monogenic diseases. During the lesson, students will enter basic information into the table “Characteristics of Hereditary Human Diseases”:

3.1. Marfan syndrome (slide 7).

Question: “What does the term “syndrome” mean? Why is this disease called that?

Students refer to the glossary (Appendix 2). Glossary for teachers Appendix 3.

The teacher talks about the manifestations of the disease: damage to the connective tissue, skeleton, high stature, disproportionately long limbs: people with very long arms and legs and a relatively short torso are unusually thin, their chest is deformed (keeled chest), their elongated fingers resemble the paws of a huge spider, which served as the basis for the figurative name of this disproportion - arachnodactyly (from the Greek "daktil" - finger and Arachne - according to myth - a woman turned by Athena into a spider). Characteristic damage to the eyes: dislocation or subluxation of the lens (the lens of the eye is displaced), trembling of the iris. Narrow, elongated face.

Famous people with Marfan syndrome (slide 8).

Question:"Several world-famous personalities have suffered from Marfan syndrome. What are the people depicted on the slide known for?"

Question: "Many of the people with Marfan syndrome were unusually productive. Why do you think that is?"

3.2. Cystic fibrosis (slide 9) .

The teacher adds: cystic fibrosis is the most common among known hereditary diseases. Every 20th inhabitant of the planet is a carrier of a defective gene. Frequency of occurrence : among newborns approximately 1:1500-1:2000. More than 130 alleles are known.

Patients with cystic fibrosis are not contagious and are mentally fully functional. Among them there are many truly gifted and intellectually developed children. They are especially successful in doing things that require peace and concentration - they study foreign languages, read and write a lot, engage in creativity, they make wonderful musicians and artists.

Watch the video of the STS TV channel, the program “History in detail. Gregory Lemarchal” (French Gregory Lemarchal, May 13, 1983, La Tronche, France - April 30, 2007, Paris, France).

Questions for students after watching: “Is it possible for a person suffering from a hereditary disease to realize himself in life? What is needed for this?”

3.3. Hemophilia (slide 10). Referring students to the glossary.

Question: “Why is hemophilia called the “royal” disease? (Paragraph 35 of the textbook, Fig. 46 “Inheritance of hemophilia”).

Watching a video from the Rossiya TV channel, Vesti program from 04/17/2009 “The diagnosis of hemophilia is no longer a death sentence.”

Before watching the video, students are asked questions: "What are the treatment methods for hemophilia? Can a person with hemophilia live a full life? For what purpose is International Hemophilia Day held?"

4. Polygenic diseases (slide 12). Teacher additions (Appendix 3).

5. Mitochondrial diseases (slide 13) - Leber syndrome, Alpers polyodystrophy, Pearson syndrome. The reason is mutations affecting mitochondrial genes that encode proteins involved in electron transfer in the respiratory chain. The phenotypic manifestation of a pathological gene depends on the ratio of normal and mutant mitochondria.

Descriptions of such syndromes continue to this day. About 30 of them are currently known.

Question:“What type of inheritance do you think mitochondrial diseases take? Consider the pattern of inheritance of such a disease.” (slide 14).

6. Chromosomal diseases (slide 15).

The teacher adds: the frequency of chromosomal diseases among newborns is about 1%. Many chromosome changes are incompatible with life and are a common cause of spontaneous abortions and stillbirths.

In total, more than 800 chromosomal diseases are currently known. In most cases, chromosomal diseases manifest as multiple congenital malformations. Chromosomal diseases are diagnosed using special cytogenetic research methods.

6.1. Causes of chromosomal diseases (slide 16).

6.2. Ploidy disturbance (slide 17).

Question:"What is aneuploidy? Polyploidy?"

6.3. Forms of aneuploidy (slides 18, 19, 20).

6.3.1. A world of equal opportunities. Down syndrome (slide 21).

Questions: “What do you know about Down syndrome? What are the causes of Down syndrome? (Paragraph 35, Figure 49). What associations does the name of this disease evoke for you?”

Teacher's additions: foreign research and foreign experience show that : The IQ of most people with Down syndrome is in the range of average developmental delay.

Children with Down syndrome are teachable.

Different people with Down syndrome have different mental abilities, different behavior and different physical development. Each person has a unique personality, abilities and talents.

People with Down syndrome can develop much more effectively if they have a loving home environment, early childhood intervention programs, special education, proper health care, and positive community support.

People with Down syndrome are not sick. They do not “suffer” from Down syndrome, are not “affected” by the syndrome, are not “victims” of it.

Not every person with Down syndrome has all the characteristics characteristic of this syndrome. And finally, even if they have the same specific feature, people will differ from each other, since this feature can manifest itself in different ways. In reality, there are many more differences between people with Down syndrome than similarities.

6.4. Trisomy on sex chromosomes (slide 22).

Question: "What are the causes of trisomies?"

6.5.Changes in chromosome structure (slide 23).

Question: “Look carefully at the pictures. What chromosome changes, besides those indicated on the slide, do you see? Name them.” Repetition of terms paragraph 34.

6.7. Diseases of chromosomal rearrangements (slide 24).

Teacher: "It is important to remember that:

1) chromosomal rearrangement can either be inherited from parents or occur during the process of fertilization. Perestroika cannot be corrected - it remains for life.

2) Perestroika is not contagious; for example, its carrier can be a blood donor.

3) People often feel guilty because there is a problem such as a chromosomal rearrangement in their family. It is important to remember that this is not anyone's fault or the result of anyone else's actions.

4) Most carriers of balanced rearrangements can have healthy children.

IV. Consolidation of acquired knowledge.

Questions (slide 25).

1. What diseases are called hereditary?

2. What is the classification of hereditary human diseases?

3. If a parent has an unusual chromosomal rearrangement, how might this affect the child?

4. Is it possible to cure chromosomal diseases?

5. What methods of preventing chromosomal diseases can you offer?

6. Look at the photograph of the famous writer of the 19th century on the next slide. G.H. Andersen. What hereditary disease can we assume he has? Why? (slide 26).

Additional information for students: his extraordinary hard work was evident even at school. He rewrote his works up to ten times, ultimately achieving virtuosic accuracy and simultaneous lightness of style. Contemporaries described his appearance as follows: “He was tall, thin and extremely unique in posture and movements. His arms and legs were disproportionately long and thin, his hands were wide and flat, and his feet were of such enormous size that he would probably never have I had to worry that someone would replace his galoshes. His nose was of the so-called Roman shape, but it was also disproportionately large and somehow protruded forward.” The nervous tension in which this talented man seemed to constantly be, gave rise to many fears in him - he was afraid of getting cholera, suffering from a fire, getting into an accident, losing important documents, taking the wrong dose of medicine...

7. On the next slide there are three people in the paintings. Question to students: “What unites them?” (slide 27).

Teacher supplementing student answers with information from history (Appendix 1). The causes of dwarfism, however, vary among these people:

Cretinism is a disease usually associated with a sharply reduced function of the thyroid gland, which is caused by insufficient iodine intake from food. Cretinism is common in mountainous areas where goiter is endemic.

A severe hereditary disease called osteochondrodysplasia, in which the growth of cartilage and bone tissue is impaired due to a lack of hormone. Therefore, in such people all body proportions are disturbed. With this disease, complete absence of fingers is not uncommon. But mental abilities and psyche remain completely normal.

Dwarf stature is the consequences of severe rickets suffered in early childhood and causing disturbances in mineral metabolism in the growing body. But such people, as a rule, study well, get an education, and start families.

Question: “Can you determine which of the people depicted suffered from a hereditary disease and which suffered from other types of diseases?”

8. What methods of human genetics are used to diagnose hereditary diseases? (updating students’ knowledge, working with the text of the textbook, paragraph 35).

9. What methods of treating metabolic diseases exist? (Working with the text of the textbook, paragraph 36, p. 126).

10. How would you comment on the sayings:

The disease does not spread through the forest, but through people.

According to the seed is the fruit: what is sown, it grows?

V. Summing up.

Conversation. The lesson discussed some hereditary human diseases, their classification, identified the causes of their occurrence, the consequences of their manifestation, diagnostic methods, and treatment methods. It is very important to promptly determine (diagnose) the presence of a hereditary disease in a newborn, and to prevent the birth of a sick child. For this purpose, medical genetic consultations have been opened in the country. Clinical genetics, which is a particular branch of human medical genetics, studies the causes, development, clinical picture, diagnosis, prevention and treatment of hereditary diseases. A specialist who deals with the problems of medical genetics is called a geneticist. This specialty appeared in our country only in 1988. Currently, in the Russian Federation there are dozens of medical genetic institutions, which employ more than 140 clinical geneticists. In Vladivostok there is also a medical-genetic consultation at the Regional Clinical Center for Maternity and Childhood Protection, a Medical-Genetic Consultation at the Regional Clinical Hospital, and at the Vladivostok State Medical Institute there is a Department of Biology with a course in medical genetics.

Giving grades to students who are actively working in class.

VI. Homework.

Paragraphs 35, 36, notes in notebooks. Textbook "Biology. Basic level. Grades 10-11." Edited by D.K. Belyaeva, G.M. Dymshitsa. M. "Enlightenment". 2008

Additional task: in our country, all newborns are examined to identify the following diseases: phenylketonuria, hypothyroidism, galactosemia, adrenogenital syndrome, cystic fibrosis. Find out which group of hereditary diseases includes phenylketonuria, hypothyroidism, galactosemia, and adrenogenital syndrome. Complete the table.

Due to the large size of the video file (24.7 MB) and the limitation by competition requirements of the total volume of material provided (up to 10 MB), the address of the page with the video is given http://www.youtube.com/watch?v=dxwjLXkJ8D0.

Address of the page with the video (7.54 MB):

http://www.youtube.com/watch?v=y4dvLomkSXA&feature=related.

List of sources.

1. Bochkov N.P., Asanov A.Yu., Zhuchenko N.A. and others. Medical genetics. - M.: Motherhood. Higher school, 2001.

2. Guttman B., Griffiths E., Suzuki D., Cullis T. Genetics - Trans. from English O. Perfilyeva. - M.: FAIR PRESS, 2004. - 448 p.: ill.

3. Dubinin N.P. Genetics and man. Book for extracurricular reading IX - X grades. M.: "Enlightenment", 1978, 144 p.

4. Zayats R.G., Butvilovsky V.E.E. Rachkovskaya, I.V., Davydv V.V. General and medical genetics. Lectures and tasks. - Rostov-on-Don: Phoenix, 2002, - 320 p.

5. Popular medical encyclopedia. Ch. ed. B.V. Petrovsky, 1987 - 704 p. from illus.

8. http://detibudut.org.ua/gloss/29.html

The manifestation of certain hereditary diseases in humans, according to scientists, is associated with several reasons:

• change in the number of chromosomes;
• disturbances in the structure of the parents' chromosomes;
• mutations at the gene level.

Of the total, only one pair contains sex chromosomes, and all the rest are autosomal and differ from each other in size and shape. A healthy person has 23 chromosome pairs. The appearance of an extra chromosome or its disappearance causes various constitutional changes in the human body.

As a result of the development of modern science, scientists have not only counted the chromosomes, but can now recognize each pair. Carrying out karyotype analyzes allows us to identify the existence of a hereditary disease in the early stages of a person’s life. These changes are associated with an imbalance of a specific chromosome pair.

Causes of hereditary diseases

Causes of hereditary diseases associated with hereditary causes can be divided into several groups:

• diseases of direct effect or congenital; they appear in the child immediately after birth. Typical representatives include hemophilia, phenylketonuria, and Down's disease. Scientists directly associate the occurrence of such diseases with the lifestyle and living conditions that both parents lived before getting married and conceiving a child. Often the cause of the development of this type of pathology is the lifestyle of the expectant mother during pregnancy. Most often, among the reasons contributing to changes in the set of chromosomes are the use of alcoholic beverages, drug-containing substances, and negative environmental conditions.
• diseases that are inherited from parents, but activated by sudden exposure to external stimuli. Such diseases progress during the growth and development of the child; their occurrence and further expansion will provoke the negativity of the mechanisms responsible for heredity. The main factor triggering the increase in symptoms is a socially negative lifestyle. Most often, such factors can cause diabetes and mental disorders.
• diseases directly related to inherited predisposition. In the presence of serious factors associated with external conditions, bronchial asthma, atherosclerosis, some heart diseases, ulcers, etc. may develop. Harmful factors include poor quality nutrition, negative ecology, thoughtless medication, and constant use of household chemicals.

Chromosomal hereditary changes

Mutations associated with changes in the number of chromosomes look like a violation of the division process - meiosis. As a result of a failure in the “program,” duplication of existing pairs of chromosomes, both sex and somatic, occurs. Sex-dependent hereditary abnormalities are transmitted via the sex X chromosome.

In the male body, this chromosome is found without a pair, thereby preserving the manifestation of a hereditary disease in men. There is a pair of “X” in the female body, so women are considered carriers of a low-quality X chromosome. In order to chromosomal hereditary diseases transmitted exclusively through the female line, the presence of an anomalous pair is necessary. This effect is quite rare in nature.

Genetic hereditary diseases

Most hereditary diseases occur as a result of gene mutations, which are changes in DNA at the molecular level and are well known to genetic scientists and pediatricians. There are gene mutations that manifest themselves at the molecular, cellular, tissue or organ levels. Despite the fact that the gap from mutation at the level of DNA molecules to the main phenotype is large, it must be emphasized that all possible mutations in tissues, organs and cells of the body belong to the phenotype. Although they are purely external changes.

Among other things, one should not lose sight of the possibility of the dangerous influence of ecology and other genes that cause various modifications and implement the functions of mutating genes. The multiple forms of proteins, the diversity of their functions and the lack of scientific knowledge in the field of metabolic processes negatively affect attempts to create a classification of gene diseases.

Conclusion

Modern medicine has about 5500-6500 clinical forms of gene diseases. These data are indicative due to the lack of clear boundaries when separating individual forms. Some genetic hereditary diseases represent different forms from a clinical point of view, but from a genetic point of view they are the consequences of a mutation in one locus.

Every gene in the human body carries unique information contained in DNA. The genotype of a particular individual provides both its unique external characteristics and largely determines its state of health.

Medical interest in genetics has been growing steadily since the second half of the 20th century. The development of this field of science opens up new methods for studying diseases, including rare ones that were considered incurable. To date, several thousand diseases have been discovered that completely depend on a person’s genotype. Let's consider the causes of these diseases, their specificity, what methods of diagnosis and treatment are used by modern medicine.

Types of genetic diseases

Genetic diseases are considered to be inherited diseases that are caused by mutations in genes. It is important to understand that congenital defects that appear as a result of intrauterine infections, the pregnant woman taking illegal drugs and other external factors that could affect pregnancy are not related to genetic diseases.

Human genetic diseases are divided into the following types:

Chromosomal aberrations (rearrangements)

This group includes pathologies associated with changes in the structural composition of chromosomes. These changes are caused by chromosome breakage, which leads to redistribution, doubling or loss of genetic material in them. It is this material that must ensure the storage, reproduction and transmission of hereditary information.

Chromosomal rearrangements lead to a genetic imbalance, which negatively affects the normal course of development of the body. Aberrations appear in chromosomal diseases: cry-the-cat syndrome, Down syndrome, Edwards syndrome, polysomies on the X chromosome or Y chromosome, etc.

The most common chromosomal abnormality in the world is Down syndrome. This pathology is caused by the presence of one extra chromosome in the human genotype, that is, the patient has 47 chromosomes instead of 46. People with Down syndrome have the 21st pair (there are 23 in total) of chromosomes in three copies, rather than the required two. There are rare cases when this genetic disease is the result of a translocation of chromosome 21 or mosaicism. In the vast majority of cases, the syndrome is not a hereditary disorder (91 out of 100).

Monogenic diseases

This group is quite heterogeneous in terms of clinical manifestations of diseases, but each genetic disease here is caused by DNA damage at the gene level. To date, over 4,000 monogenic diseases have been discovered and described. These include diseases with mental retardation, hereditary metabolic diseases, isolated forms of microcephaly, hydrocephalus and a number of other diseases. Some of the diseases are already noticeable in newborns, others make themselves felt only during puberty or when a person reaches 30–50 years of age.

Polygenic diseases

These pathologies can be explained not only by genetic predisposition, but also, to a large extent, by external factors (poor nutrition, poor environment, etc.). Polygenic diseases are also called multifactorial. This is justified by the fact that they appear as a result of the actions of many genes. The most common multifactorial diseases include: rheumatoid arthritis, hypertension, coronary heart disease, diabetes mellitus, liver cirrhosis, psoriasis, schizophrenia, etc.

These diseases make up about 92% of the total number of pathologies transmitted by inheritance. With age, the incidence of diseases increases. In childhood, the number of patients is at least 10%, and in the elderly - 25-30%.

To date, several thousand genetic diseases have been described, here is just a short list of some of them:

The most common genetic diseases	The rarest genetic diseases
Hemophilia (blood clotting disorder)	Capgras delusion (a person believes that someone close to them has been replaced by a clone).
Colorblindness (inability to distinguish colors)	Klein-Levin syndrome (excessive sleepiness, behavioral disturbances)
Cystic fibrosis (respiratory dysfunction)	Elephantiasis (painful skin growths)
Spina bifida (vertebrae do not close around the spinal cord)	Cicero (psychological disorder, desire to eat inedible things)
Tay-Sachs disease (CNS damage)	Stendhal syndrome (rapid heartbeat, hallucinations, loss of consciousness when seeing works of art)
Klinefelter syndrome (androgen deficiency in men)	Robin's syndrome (maxillofacial defect)
Prader-Willi syndrome (delayed physical and intellectual development, defects in appearance)	Hypertrichosis (excessive hair growth)
Phenylketonuria (disorder of amino acid metabolism)	Blue skin syndrome (blue skin color)

Some genetic diseases can appear literally in every generation. As a rule, they do not appear in children, but with age. Risk factors (poor environment, stress, hormonal imbalances, poor nutrition) contribute to the manifestation of a genetic error. Such diseases include diabetes, psoriasis, obesity, hypertension, epilepsy, schizophrenia, Alzheimer's disease, etc.

Diagnosis of gene pathologies

Not every genetic disease is detected from the first day of a person’s life; some of them manifest themselves only after several years. In this regard, it is very important to undergo timely research for the presence of gene pathologies. Such diagnostics can be carried out both at the stage of pregnancy planning and during the period of bearing a child.

There are several diagnostic methods:

Biochemical analysis

Allows you to identify diseases associated with hereditary metabolic disorders. The method involves a human blood test, qualitative and quantitative study of other biological fluids of the body;

Cytogenetic method

Identifies the causes of genetic diseases that lie in disturbances in the organization of cellular chromosomes;

Molecular cytogenetic method

An improved version of the cytogenetic method, which makes it possible to detect even microchanges and the smallest chromosome breaks;

Syndromological method

A genetic disease in many cases may have the same symptoms that will coincide with the manifestations of other, non-pathological diseases. The method consists in the fact that with the help of a genetic examination and special computer programs, from the entire spectrum of symptoms, only those that specifically indicate a genetic disease are isolated.

Molecular genetic method

At the moment it is the most reliable and accurate. It makes it possible to study human DNA and RNA and detect even minor changes, including in the nucleotide sequence. Used to diagnose monogenic diseases and mutations.

Ultrasound examination (ultrasound)

To identify diseases of the female reproductive system, ultrasound of the pelvic organs is used. Ultrasound is also used to diagnose congenital pathologies and some chromosomal diseases of the fetus.

It is known that about 60% of spontaneous miscarriages in the first trimester of pregnancy are due to the fact that the fetus had a genetic disease. The mother's body thus gets rid of the non-viable embryo. Inherited genetic diseases can also cause infertility or repeated miscarriages. Often a woman has to undergo many inconclusive examinations until she consults a geneticist.

The best prevention of the occurrence of a genetic disease in the fetus is a genetic examination of the parents during pregnancy planning. Even being healthy, a man or woman can carry damaged gene sections in their genotype. A universal genetic test can detect more than a hundred diseases that are based on gene mutations. Knowing that at least one of the future parents is a carrier of the disorder, the doctor will help you choose adequate tactics for preparing for pregnancy and its management. The fact is that gene changes that accompany pregnancy can cause irreparable harm to the fetus and even become a threat to the life of the mother.

During a woman's pregnancy, with the help of special studies, genetic diseases of the fetus are sometimes diagnosed, which may raise the question of whether it is worth continuing the pregnancy at all. The earliest time for diagnosing these pathologies is the 9th week. This diagnosis is carried out using the safe, non-invasive DNA test Panorama. The test consists of taking blood from a vein from the expectant mother, using the sequencing method to isolate the genetic material of the fetus from it and studying it for the presence of chromosomal abnormalities. The study can identify abnormalities such as Down syndrome, Edwards syndrome, Patau syndrome, microdeletion syndromes, sex chromosome pathologies and a number of other anomalies.

An adult, after passing genetic tests, can find out about his predisposition to genetic diseases. In this case, he will have a chance to resort to effective preventive measures and prevent the occurrence of a pathological condition by being observed by a specialist.

Treatment of genetic diseases

Any genetic disease presents difficulties for medicine, especially since some of them are quite difficult to diagnose. A huge number of diseases cannot be cured in principle: Down syndrome, Klinefelter syndrome, cystic fibrosis, etc. Some of them seriously reduce human life expectancy.

Main methods of treatment:

• Symptomatic

  Relieves symptoms that cause pain and discomfort, prevents the progression of the disease, but does not eliminate its cause.

  geneticist

  Kyiv Yulia Kirillovna

  If you have:

  • questions arose regarding the results of prenatal diagnostics;
  • poor screening results
  we offer you sign up for a free consultation with a geneticist*

  *consultation is carried out for residents of any region of Russia via the Internet. For residents of Moscow and the Moscow region, personal consultation is possible (bring with you a passport and a valid compulsory medical insurance policy)

The concept of “hereditary disease” of a person

Definition 1

Hereditary disease – this is a disease of a living organism, the manifestation and development of which is associated with disorders of the chromosomal apparatus of cells that are transmitted through germ cells - eggs and sperm.

Like all other multicellular organisms, everything that a person inherits from his ancestors is concentrated in these two cells. During fertilization, the sex cells fuse and give rise to a new organism. Each sex cell carries a single (haploid) set of chromosomes. As a result of fertilization of the egg, the zygote receives all the necessary information for the entire period of individual development of the organism (ontogenesis).

The cells of the human body (as well as other organisms) encode both useful information (contributing to the survival of the organism in given conditions) and negative information (signs that worsen the vital activity of the organism, reducing its viability). All this information is inherited from generation to generation and, under certain conditions, can manifest itself phenotypically.

We call the state of decreased vital qualities of the body a disease. Therefore, we call those human diseases that can be transmitted from generation to generation hereditary human diseases.

Causes of hereditary diseases

The cause of hereditary diseases can be changes in genetic information under the influence of certain factors. These changes can appear immediately after the birth of a child, or they can also appear at later stages of ontogenesis.

Scientists attribute the occurrence of hereditary diseases to three groups of factors: chromosome disruption, changes in chromosome structure and gene mutations. These processes can be caused (provoked) by various factors of the external and internal environment. Such factors are called mutagenic in science. After all, sudden changes in the hereditary apparatus are nothing more than mutations.

Types of hereditary diseases

Based on the reasons under consideration, all hereditary human diseases are conventionally divided into three groups: genetic, chromosomal and multifactorial or multifactorial (diseases with a hereditary predisposition).

Gene diseases

This category of diseases includes diseases caused by changes in the structure of individual genes (DNA strand damage) that are invisible even under a microscope. Such changes lead to the synthesis of altered products of these genes and, as a result, to changes or even complete loss of their functions. These are so-called metabolic diseases.

This type of disease includes sickle cell anemia. This disease is caused by the replacement of just one nucleotide (adenine is replaced by thymine), which entails a change in hemoglobin.

Disturbances in the regulation of gene activity lead to a decrease in the rate of enzyme synthesis or a decrease in its content in tissues (for example, the disease thalassemia - reduced hemoglobin synthesis).

Chromosomal diseases

Chromosomal diseases are often called syndromes. These are pathological changes that manifest themselves in the form of various developmental defects and are often accompanied by very severe deviations (impairments) in the physical and mental development of a person. As a rule, the main deviation is various degrees of mental disability, accompanied by disturbances in physical development (vision, hearing, speech, musculoskeletal system) and behavioral reactions.

The cause of chromosomal diseases is chromosomal mutations - changes in the structure of chromosomes and their number. Chromosomal diseases include Down syndrome, cat cry syndrome, etc.

Diseases with hereditary predisposition or multifactorial diseases

Diseases with a hereditary predisposition are a category of diseases whose inheritance does not obey Mendelian laws. Every organism is unique. Therefore, his reactions to the environment can be purely individual. Therefore, the manifestation of the disease can be associated both with mutations and with a combination of normal alleles in the body’s response to environmental influences.

1. diabetes, varicose veins, coronary heart disease (somatic diseases of middle age);
2. schizophrenia, epilepsy, manic-depressive psychosis (neuropsychic diseases);
3. chronic diseases associated with weakened immunity.