Genomic pathology. Congenital malformations of the fetus, hereditary diseases in newborns

24.04.2020 -

At the beginning of the 21st century, there are already more than 6 thousand types of hereditary diseases. Now many institutions around the world are studying people, the list of which is huge.

The male population has more and more genetic defects and is less likely to conceive healthy child. All the reasons for the pattern of development of defects are still unclear, but it can be assumed that in the next 100-200 years science will cope with solving these issues.

What are genetic diseases? Classification

Genetics as a science began its research path in 1900. Genetic diseases are those that are associated with deviations in the human gene structure. Deviations can occur in one gene or in several.

Hereditary diseases:

Autosomal dominant.
Autosomal recessive.
Glued to the floor.
Chromosomal diseases.

The probability for an autosomal dominant disorder is 50%. With autosomal recessive - 25%. Sex-linked diseases are those caused by a damaged X chromosome.

Hereditary diseases

Let us give several examples of diseases according to the above classification. So, dominant-recessive diseases include:

Marfan syndrome.
Paroxysmal myoplegia.
Thalassemia.
Otosclerosis.

Recessive:

Phenylketonuria.
Ichthyosis.
Other.

Sex-linked diseases:

Hemophilia.
Muscular dystrophy.
Farby's disease.

Also heard of chromosomal hereditary diseases person. The list of chromosomal abnormalities is as follows:

Shareshevsky-Turner syndrome.
Down syndrome.

Polygenic diseases include:

Hip dislocation (congenital).
Heart defects.
Schizophrenia.
Cleft lip and palate.

The most common gene abnormality is syndactyly. That is, the fusion of fingers. Syndactyly is the most harmless disorder and can be treated with surgery. However, this deviation accompanies other more serious syndromes.

What diseases are the most dangerous?

Of those listed diseases The most dangerous hereditary human diseases can be identified. Their list consists of those types of anomalies where trisomy or polysomy occurs in the chromosome set, that is, when instead of a pair of chromosomes there is the presence of 3, 4, 5 or more. There is also 1 chromosome instead of 2. All these deviations occur due to impaired cell division.

The most dangerous hereditary human diseases:

Edwards syndrome.
Spinal muscular amyotrophy.
Patau syndrome.
Hemophilia.
Other diseases.

As a result of such violations, the child lives for a year or two. In some cases, the abnormalities are not so serious, and the child may live to be 7, 8 or even 14 years old.

Down syndrome

Down syndrome is inherited if one or both parents are carriers of defective chromosomes. More precisely, the syndrome is associated with chromosomes (ie 21 chromosomes 3, not 2). Children with Down syndrome have squints, creases in the neck, abnormally shaped ears, heart problems and mental retardation. But the chromosomal abnormality does not pose a danger to the life of newborns.

Now statistics say that out of 700-800 children, 1 is born with this syndrome. Women who want to have a child after 35 are more likely to give birth to such a baby. The probability is somewhere around 1 in 375. But a woman who decides to have a baby at 45 has a probability of 1 in 30.

Acrocraniodysphalangia

The type of inheritance of the anomaly is autosomal dominant. The cause of the syndrome is a disorder in chromosome 10. In science, this disease is called acrocraniodysphalangia, or more simply, Apert syndrome. Characterized by such body structure features as:

brachycephaly (violations of the ratio of the width and length of the skull);
fusion of the coronary sutures of the skull, as a result of which hypertension is observed (increased blood pressure inside the skull);
syndactyly;
prominent forehead;
often mental retardation due to the fact that the skull compresses the brain and does not allow nerve cells to grow.

Nowadays, children with Apert syndrome are prescribed surgery to enlarge the skull to restore blood pressure. And mental underdevelopment is treated with stimulants.

If a family has a child diagnosed with the syndrome, the likelihood that a second child will be born with the same disorder is very high.

Happy doll syndrome and Canavan-van-Bogaert-Bertrand disease

Let's take a closer look at these diseases. Engelman syndrome can be recognized from 3 to 7 years of age. Children have seizures poor digestion, problems with coordination of movements. Most of them have strabismus and problems with the facial muscles, which is why they often smile on their faces. The child's movements are very constrained. For doctors, this is understandable when a child is trying to walk. Parents in most cases do not know what is happening, much less what it is connected with. A little later, it is also noticeable that they cannot speak, they are only trying to mutter something inarticulately.

The reason why a child exhibits the syndrome is a problem on chromosome 15. The disease is extremely rare - 1 case per 15 thousand births.

Another disease, Canavan disease, is characterized by the fact that the child has weak muscle tone and has problems swallowing food. The disease is caused by damage to the central nervous system. The reason is the defeat of one gene on chromosome 17. As a result nerve cells brain are destroyed with progressive rapidity.

Signs of the disease can be seen at 3 months of age. Canavan's disease manifests itself as follows:

Macrocephaly.
Convulsions appear at one month of age.
The child is unable to hold his head upright.
After 3 months, tendon reflexes increase.
Many children become blind by the age of 2.

As you can see, human hereditary diseases are very diverse. The list given for illustrative purposes only is far from complete.

I would like to note that if both parents have a disorder in 1 and the same gene, then the chances of giving birth to a sick child are high, but if the abnormalities are in different genes, then there is no need to be afraid. It is known that in 60% of cases, chromosomal abnormalities in the embryo lead to miscarriage. But still, 40% of such children are born and fight for their lives.

V.G. Vakharlovsky - medical geneticist, pediatric neurologist highest category, Candidate of Medical Sciences. Doctor of the genetic laboratory for prenatal diagnosis of hereditary and congenital diseases of IAH named after. TO. Otta - for more than 30 years he has been engaged in medical and genetic counseling on the prognosis of the health status of children, the study, diagnosis and treatment of children suffering from hereditary and congenital diseases nervous system. Author of more than 150 publications.

Each of us, thinking about a child, dreams of having only a healthy and ultimately happy son or daughter. Sometimes our dreams are crushed, and a child is born seriously ill, but this does not mean at all that this dear, blood (scientifically: biological) child in the overwhelming majority of cases will be less loved and less dear. Of course, when a sick child is born, worries, material costs, and stress - physical and moral - arise immeasurably more than when a healthy child is born. Some people condemn a mother and/or father who abandons a sick child. But, as the Gospel tells us: “Judge not and you will not be judged.” They abandon the child for a variety of reasons, both on the part of the mother and/or father (social, material, age, etc.) and the child (severity of the disease, the possibility and prospects of treatment, etc.). So-called abandoned children can be both sick and practically healthy people regardless of age: both newborns and children infancy, and older ones.

Due to various circumstances, the spouses decide to take a child into the family from orphanage or directly from maternity hospital. Less often, this, from our point of view, humane, courageous civil act, is done by single women. It happens that orphanage disabled children are abandoned and their named parents consciously take into the family a child with an illness or with childhood cerebral palsy etc.

The purpose of this work is to highlight the clinical and genetic features of the most common hereditary diseases that appear in a child immediately after birth and then on the basis clinical picture the disease can be diagnosed, or during the subsequent years of the child’s life, when the pathology is diagnosed depending on the time of appearance of the first symptoms specific to this disease. Some diseases can be detected in a child even before clinical symptoms using a number of laboratory biochemical, cytogenetic and molecular genetic studies.

The probability of having a child with a congenital or hereditary pathology, the so-called population or general statistical risk, equal to 3-5%, haunts every pregnant woman. In some cases, it is possible to predict the birth of a child with a particular disease and diagnose the pathology already in the prenatal period. Some congenital defects and diseases are diagnosed in the fetus using laboratory-biochemical, cytogenetic and molecular genetic techniques, or more precisely, a set of prenatal (antenatal) diagnostic methods.

We are convinced that all children offered for adoption should be examined in detail by all medical specialists in order to exclude relevant specialized pathologies, including examination and examination by a geneticist. In this case, all known data about the child and his parents must be taken into account.

Chromosomal mutations

In the nucleus of every cell human body there are 46 chromosomes, i.e. 23 pairs containing all hereditary information. A person receives 23 chromosomes from the mother with the egg and 23 from the father with the sperm. When these two sex cells merge, the result that we see in the mirror and around us is obtained. The study of chromosomes is carried out by a cytogeneticist. For this purpose, blood cells called lymphocytes are used, which are specially treated. A set of chromosomes, distributed by a specialist into pairs and by serial number - the first pair, etc., is called a karyotype. We repeat, the nucleus of each cell contains 46 chromosomes or 23 pairs. The last pair of chromosomes determines the sex of a person. In girls, these are XX chromosomes, one of them is received from the mother, the other from the father. Boys have XY sex chromosomes. The first is received from the mother and the second from the father. Half of the sperm contain the X chromosome and the other half the Y chromosome.

There is a group of diseases that are caused by changes in the set of chromosomes. The most common of these is Down syndrome (one in 700 newborns). The diagnosis of this disease in a child must be made by a neonatologist in the first 5-7 days of the newborn’s stay in the hospital. maternity hospital and confirm by examining the child’s karyotype. In Down disease, the karyotype is 47 chromosomes, the third chromosome is found on the 21st pair. Girls and boys suffer from this chromosomal pathology equally.

Only girls can have Shereshevsky-Turner disease. The first signs of pathology are most often noticeable at 10-12 years of age, when the girl is small in stature, low-set hair on the back of her head, and at 13-14 years old there is no hint of menstruation. There is a slight lag mental development. The leading symptom in adult patients with Shereshevsky-Turner disease is infertility. The karyotype of such a patient is 45 chromosomes. One X chromosome is missing. The incidence of the disease is 1 in 3,000 girls and among girls with a height of 130-145 cm - 73 in 1,000.

Only males experience Kleinfelter's disease, the diagnosis of which is most often made at 16-18 years of age. The patient is tall (190 cm and above), often with slight mental retardation, disproportionate to height long arms, covering chest at its girth. When studying the karyotype, 47 chromosomes are observed - 47, XXY. In adult patients with Kleinfelter's disease, the leading symptom is infertility. Disease prevalence is 1:18,000 healthy men, 1:95 boys behind mental development and one among 9 men experiencing infertility.

Above we have described the most common chromosomal diseases. More than 5,000 diseases of hereditary nature are classified as monogenic, in which there is a change, mutation, in any of the 30,000 genes found in the nucleus human cell. The work of certain genes contributes to the synthesis (formation) of the protein or proteins corresponding to this gene, which are responsible for the functioning of cells, organs and systems of the body. A disruption (mutation) of a gene leads to a disruption of protein synthesis and further disruption physiological function cells, organs and systems of the body in whose activities this protein is involved. Let's look at the most common of these diseases.

As you know, all the appearance and other features of the baby depend on the set of genes that he received from both parents. For most of us, the issue of heredity is interesting only for determining the color of the eyes and hair of the future baby, but the importance of genetics does not end there. IN lately Even at the stage of planning a child, future parents are strongly recommended to seek help from a geneticist, who will determine the likelihood of having a healthy baby in this particular couple. Such a specialist will help calculate the possible risk of developing various genetic diseases that are inherited.

What is genetic inheritance?

The nucleus of each cell in our body contains twenty-three pairs of chromosomes, which contain all hereditary information. We receive half of them from the mother’s body along with the egg, and half from the father’s body along with the sperm. The fusion of these germ cells leads to the birth of a new life. If some gene of the parents is pathogenic, it can be passed on to the baby. If the carrier of such a code is only the father or only the mother, then the likelihood of transmission is significantly reduced.

In general, the chance of a child developing a genetic disease is only three to five percent. However, parents need not to rely on chance, but to take planning for the baby very seriously.
Let's try to figure out what hereditary human genetic diseases exist that are inherited.

Down's disease

Down's disease is considered to be the most common genetic disease; statistics show that one in seven hundred newborns suffers from it. This diagnosis is usually made by a neonatologist in the maternity hospital during the first five to seven days of life. To confirm this status of the baby, a study of the baby’s karyotype (set of chromosomes) is carried out. With Down syndrome, a child has one more chromosome - forty-seven. This disease develops equally often in boys and girls.

Shershevsky-Turner disease

This disease develops only in girls. Its first signs become noticeable only at the age of ten to twelve and are expressed in short stature and low-set hair on the back of the head. Doctors are usually consulted due to lack of menstruation. Over time, the disease leads to some problems in mental development. With Shershevsky-Turner disease, a girl is missing one X chromosome in her karyotype.

Klinefelter's disease

This disease is diagnosed exclusively in males. Most often it is found in the age range from sixteen to eighteen years. Patients are tall - more than one hundred and ninety centimeters, often have some mental retardation and especially long arms, disproportionate to the body, which cover the chest. A karyotype study shows one more X chromosome, in some cases it may also be detected by the presence of other extra chromosomes - Y, XX, XY, etc. The main symptom of Klinefelter's disease is infertility.

Phenylcuthonuria

This disease is considered to be one of the most common genetic diseases. With this pathology, the body is not able to absorb the amino acid phenylalanine, which leads to its accumulation in the body. Toxic concentrations of this substance negatively affect the activity of the brain, various organs and systems. The patient has a significant delay in mental and physical development, seizures, dyspeptic-type problems, as well as dermatitis. To correct phenylketonuria, a special diet is used; babies are given special amino acid mixtures that do not contain phenylalanine.

Cystic fibrosis

This disease is also considered relatively common. It is manifested by damage to all organs that produce mucus - the bronchopulmonary system suffers, digestive tract, liver, sweat, salivary and gonads. Patients experience manifestations of chronic inflammation of the lungs, as well as the bronchi, which are combined with dyspeptic problems - diarrhea, which is followed by constipation, nausea, etc. Therapy involves taking enzyme preparations, as well as anti-inflammatory medications.

Hemophilia

This disease is diagnosed exclusively in boys, although women are carriers of the affected gene. Hemophilia is characterized by problems with blood clotting, which can lead to various complications and violations. With this diagnosis, even a small cut is accompanied by prolonged bleeding, and a bruise leads to the formation of a huge subcutaneous hematoma. Injuries of this nature can be fatal. Hemophilia is treated by administering to the patient the clotting factor he or she lacks. Therapy should continue throughout life.

We looked at only a few of the most well-known and common genetic diseases that are inherited. In fact, their list is much longer. Therefore, all couples who are planning to have children, even before pregnancy, need to consult with a qualified geneticist who can foresee possible risks for their common child.

Rare genetic diseases are a very relative concept, because a disease may be virtually non-existent in one region, but in another area of the world systematically affects a large part of the population.

Diagnosis of genetic diseases

Hereditary diseases do not necessarily appear from the first day of life; they can manifest themselves only after a few years. Therefore, it is important to do timely analysis for human genetic diseases, the implementation of which is possible both during pregnancy planning and during fetal development. There are several diagnostic methods:

Biochemical. Allows you to determine the presence of a group of diseases associated with hereditary metabolic disorders. This method includes the analysis of peripheral blood for genetic diseases, as well as qualitative and quantitative examination of other biological fluids of the body.
Cytogenetic. Serves to identify diseases that arise due to disturbances in the organization of cell chromosomes.
Molecular cytogenetic. It is a more advanced method compared to the previous one and allows you to diagnose even the slightest changes in the structure and location of chromosomes.
Syndromological. Symptoms of genetic diseases often coincide with signs of other, non-pathological diseases. The essence of this method of diagnosis is to identify from the entire range of symptoms specifically those that indicate a syndrome of hereditary disease. This is done with the help of special computer programs and a thorough examination by a geneticist.
Molecular genetic. The most modern and reliable method. Allows you to study human DNA and RNA and detect even minor changes, including in the nucleotide sequence. Used for diagnosing monogenic diseases and mutations.
Ultrasound examination:

pelvic organs - to determine diseases reproductive system in women, causes of infertility;
fetal development - to diagnose congenital defects and the presence of certain chromosomal diseases.

Treatment of genetic diseases

Treatment is carried out using three methods:

Symptomatic. Does not eliminate the cause of the disease, but relieves painful symptoms and prevents further progression of the disease.
Etiological. It directly affects the causes of the disease using gene correction methods.
Pathogenetic. It is used to change physiological and biochemical processes in the body.

Types of genetic diseases

Genetic hereditary diseases are divided into three groups:

Chromosomal aberrations.
Monogenic diseases.
Polygenic diseases.

It should be noted that congenital diseases do not belong to hereditary diseases, because they most often arise due to mechanical damage fetus or infectious lesions.

List of genetic diseases

The most common hereditary diseases:

hemophilia;
color blindness;
Down syndrome;
cystic fibrosis;
spina bifida;
Canavan disease;
Pelizaeus-Merzbacher leukodystrophy;
neurofibromatosis;
Angelman syndrome;
Tay-Sachs disease;
Charcot-Marie disease;
Joubert syndrome;
Prader-Willi syndrome;
Turner syndrome;
Klinefelter's syndrome;
phenylketonuria.

Genetic diseases- these are diseases that arise in humans due to chromosomal mutations and defects in genes, that is, in the hereditary cellular apparatus. Damage to the genetic apparatus leads to serious and varied problems - hearing loss, visual impairment, delayed psycho-physical development, infertility and many other diseases.

The concept of chromosomes

Every cell of the body has cell nucleus, the main part of which is chromosomes. A set of 46 chromosomes is a karyotype. 22 pairs of chromosomes are autosomes, and the last 23 pair are sex chromosomes. These are the sex chromosomes that differentiate a man and a woman from each other.

Everyone knows that women have XX chromosomes, and men have XY chromosomes. When a new life arises, the mother passes on the X chromosome, and the father - either X or Y. It is with these chromosomes, or rather with their pathology, that genetic diseases are associated.

The gene can mutate. If it is recessive, then the mutation can be passed on from generation to generation without manifesting itself in any way. If the mutation is dominant, then it will definitely manifest itself, so it is advisable to protect your family by learning about the potential problem in time.

Genetic diseases are a problem in the modern world.

More and more hereditary pathologies are being discovered every year. More than 6,000 names of genetic diseases are already known; they are associated with both quantitative and qualitative changes in the genetic material. According to the World Health Organization, approximately 6% of children suffer from hereditary diseases.

The most unpleasant thing is that genetic diseases can appear only after several years. Parents rejoice healthy baby, not suspecting that the children are sick. For example, some hereditary diseases can manifest themselves at the age when the patient himself has children. And half of these children may be doomed if the parent carries a dominant pathological gene.

But sometimes it is enough to know that the child’s body is not able to absorb a certain element. If parents are warned about this in time, then in the future, simply avoiding products containing this component, you can protect the body from manifestations of a genetic disease.

Therefore, it is very important that when planning a pregnancy, a test for genetic diseases is done. If the test shows the likelihood of transmitting the mutated gene to the unborn child, then in German clinics they can carry out gene correction during artificial insemination. Tests can also be done during pregnancy.

In Germany you may be offered innovative technologies the latest diagnostic developments that can dispel all your doubts and suspicions. About 1,000 genetic diseases can be detected before a child is born.

Genetic diseases - what are the types?

We will look at two groups of genetic diseases (actually there are more)

1. Diseases with a genetic predisposition.

Such diseases can manifest themselves under the influence external factors environment and are highly dependent on individual genetic predisposition. Some diseases may appear in older people, while others may appear unexpectedly and early. So, for example, swipe on the head can provoke epilepsy, taking an indigestible product can cause severe allergies, etc.

2. Diseases that develop in the presence of a dominant pathological gene.

Such genetic diseases are passed on from generation to generation. For example, muscular dystrophy, hemophilia, six-fingered, phenylketonuria.

Families at high risk of having a child with a genetic disease.

Which families first need to attend genetic consultations and identify the risk of hereditary diseases in their offspring?

1. Consanguineous marriages.

2. Infertility of unknown etiology.

3. Age of parents. Considered a risk factor if to the expectant mother more than 35 years old, and my father is more than 40 (according to some sources, more than 45). With age, more and more damage appears in the reproductive cells, which increases the risk of having a baby with a hereditary pathology.

4. Hereditary family diseases, that is, similar diseases in two or more family members. There are diseases with pronounced symptoms and the parents have no doubt that this is a hereditary disease. But there are signs (microanomalies) that parents do not pay due attention to. For example, an unusual shape of the eyelids and ears, ptosis, coffee-colored spots on the skin, a strange smell of urine, sweat, etc.

5. Complicated obstetric history - birth dead child, more than one spontaneous miscarriage, missed pregnancies.

6. Parents are representatives of a small nationality or come from one small locality (in this case, there is a high probability of consanguineous marriages)

7. The impact of unfavorable household or professional factors on one of the parents (calcium deficiency, insufficient protein nutrition, work in a printing house, etc.)

8. Poor environmental conditions.

9. Use of drugs with teratogenic properties during pregnancy.

10. Diseases, especially viral etiology (rubella, chicken pox) suffered by a pregnant woman.

11. Unhealthy lifestyle. Constant stress, alcohol, smoking, drugs, poor nutrition can cause damage to genes, since the structure of chromosomes is influenced unfavorable conditions may change throughout life.

Genetic diseases - what are the diagnostic methods?

In Germany, the diagnosis of genetic diseases is highly effective, since all known high-tech methods and absolutely all the capabilities of modern medicine (DNA analysis, DNA sequencing, genetic passport, etc.) are used to determine potential hereditary problems. Let's look at the most common ones.

1. Clinical and genealogical method.

This method is important condition qualitative diagnosis of genetic disease. What does it include? First of all, a detailed interview with the patient. If there is a suspicion of a hereditary disease, then the survey concerns not only the parents themselves, but also all relatives, that is, complete and thorough information is collected about each family member. Subsequently, a pedigree is compiled indicating all the signs and diseases. This method ends genetic analysis, on the basis of which a correct diagnosis is made and optimal therapy is selected.

2. Cytogenetic method.

Thanks to this method, diseases that arise due to problems in the cell's chromosomes are determined. The cytogenetic method examines the internal structure and arrangement of chromosomes. This is a very simple technique - a scraping is taken from the mucous membrane of the inner surface of the cheek, then the scraping is examined under a microscope. This method is carried out with parents and family members. A type of cytogenetic method is molecular cytogenetic, which allows you to see the smallest changes in the structure of chromosomes.

3. Biochemical method.

This method, by examining the mother’s biological fluids (blood, saliva, sweat, urine, etc.), can determine hereditary diseases based on metabolic disorders. One of the most famous genetic diseases associated with metabolic disorders is albinism.

4. Molecular genetic method.

This is the most progressive method currently used to identify monogenic diseases. It is very accurate and detects pathology even in the nucleotide sequence. Thanks to this method it is possible to determine genetic predisposition to the development of oncology (cancer of the stomach, uterus, thyroid gland, prostate, leukemia, etc.) Therefore, it is especially indicated for persons whose close relatives suffered from endocrine, mental, oncological and vascular diseases.

In Germany, to diagnose genetic diseases, you will be offered the full range of cytogenetic, biochemical, molecular genetic studies, prenatal and postnatal diagnostics, plus neonatal screening of the newborn. Here you can walk about 1000 genetic tests who are admitted to clinical application on the territory of the country.

Pregnancy and genetic diseases

Prenatal diagnosis provides great opportunities for identifying genetic diseases.

Prenatal diagnosis includes studies such as

chorionic villus biopsy - analysis of fetal chorionic tissue at 7-9 weeks of pregnancy; a biopsy can be performed in two ways - through the cervix or by puncturing the anterior abdominal wall;
amniocentesis - at 16-20 weeks of pregnancy, amniotic fluid is obtained through puncture of the anterior abdominal wall;
Cordocentesis is one of the most important diagnostic methods, as it examines fetal blood obtained from the umbilical cord.

Screening methods such as triple test, fetal echocardiography, and determination of alpha-fetoprotein are also used in diagnosis.

Ultrasound imaging of the fetus in 3D and 4D dimensions can significantly reduce the birth of babies with developmental defects. All of these techniques are low risk side effects and do not adversely affect the course of pregnancy. If a genetic disease is detected during pregnancy, the doctor will suggest certain individual tactics for managing the pregnant woman. IN early period pregnancy in German clinics can offer gene correction. If gene correction is carried out in time in the embryonic period, then some genetic defects can be corrected.

Neonatal screening of a child in Germany

Neonatal newborn screening identifies the most common genetic diseases in an infant. Early diagnosis allows you to understand that the child is sick even before the first signs of illness appear. Thus, the following hereditary diseases can be identified - hypothyroidism, phenylketonuria, maple syrup disease, adrenogenital syndrome and others.

If these diseases are detected in time, the chance of curing them is quite high. High-quality neonatal screening is also one of the reasons why women fly to Germany to give birth to a child here.

Treatment of human genetic diseases in Germany

Until recently, genetic diseases were not treated; it was considered impossible, and therefore hopeless. Therefore, the diagnosis of a genetic disease was regarded as a death sentence, and best case scenario one could only count on symptomatic treatment. Now the situation has changed. Progress is noticeable, there are positive results treatment, moreover, science is constantly discovering new and effective ways treatment of hereditary diseases. And although many hereditary diseases cannot be cured today, geneticists are optimistic about the future.

Treatment of genetic diseases is a very complex process. It is based on the same principles of influence as any other disease - etiological, pathogenetic and symptomatic. Let's look briefly at each.

1. Etiological principle of influence.

The etiological principle of influence is the most optimal, since treatment is aimed directly at the causes of the disease. This is achieved using methods of gene correction, isolating the damaged part of DNA, cloning it and introducing it into the body. At the moment, this task is very difficult, but for some diseases it is already feasible

2. Pathogenetic principle of influence.

Treatment is aimed at the mechanism of development of the disease, that is, it changes the physiological and biochemical processes in the body, eliminating defects caused by the pathological gene. As genetics develops, the pathogenetic principle of influence expands, and for different diseases, new ways and possibilities for correcting damaged links will be found every year.

3. Symptomatic principle of influence.

According to this principle, treatment of a genetic disease is aimed at relieving pain and other unpleasant phenomena and preventing further progression of the disease. Symptomatic treatment is always prescribed; it can be combined with other methods of influence, or it can be independent and the only treatment. This is the prescription of painkillers, sedatives, anticonvulsants and other medications. The pharmaceutical industry is now very developed, so the spectrum medicines, used for the treatment (or rather, for the relief of manifestations) of genetic diseases is very wide.

Besides drug treatment To symptomatic treatment include the use of physiotherapeutic procedures - massage, inhalations, electrotherapy, balneotherapy, etc.

Sometimes used surgical method treatment to correct deformities, both external and internal.

Geneticists in Germany already have extensive experience in treating genetic diseases. Depending on the manifestation of the disease and individual parameters, the following approaches are used:

genetic nutrition;
gene therapy,
stem cell transplantation,
organ and tissue transplantation,
enzyme therapy,
hormone and enzyme replacement therapy;
hemosorption, plasmaphoresis, lymphosorption - cleansing the body with special preparations;
surgical treatment.

Of course, treatment of genetic diseases takes a long time and is not always successful. But the number of new approaches to therapy is growing every year, so doctors are optimistic.

Gene therapy

Doctors and scientists around the world place special hopes on gene therapy, thanks to which it is possible to introduce high-quality genetic material into the cells of a sick organism.

Gene correction consists of the following stages:

obtaining genetic material (somatic cells) from the patient;
introduction of a therapeutic gene into this material, which corrects the gene defect;
cloning of corrected cells;
introduction of new healthy cells into the patient’s body.

Gene correction requires great caution, since science does not yet have complete information about the functioning of the genetic apparatus.

List of genetic diseases that can be identified

There are many classifications of genetic diseases; they are arbitrary and differ in their construction principles. Below we provide a list of the most common genetic and hereditary diseases:

Gunther's disease;
Canavan disease;
Niemann-Pick disease;
Tay-Sachs disease;
Charcot-Marie disease;
hemophilia;
hypertrichosis;
color blindness - insensitivity to color, color blindness is transmitted only with the female chromosome, but the disease affects only men;
Capgras fallacy;
Pelizaeus-Merzbacher leukodystrophy;
Blashko lines;
micropsia;
cystic fibrosis;
neurofibromatosis;
heightened reflection;
porphyria;
progeria;
spina bifida;
Angelman syndrome;
exploding head syndrome;
blue skin syndrome;
Down syndrome;
living corpse syndrome;
Joubert syndrome;
stone man syndrome
Klinefelter's syndrome;
Klein-Levin syndrome;
Martin-Bell syndrome;
Marfan syndrome;
Prader-Willi syndrome;
Robin's syndrome;
Stendhal's syndrome;
Turner syndrome;
elephantiasis;
phenylketonuria.
cicero and others.

In this section we will go into detail about each disease and tell you how some of them can be cured. But it is better to prevent genetic diseases than to treat them, especially many diseases modern medicine doesn't know how to cure.

Genetic diseases are a group of diseases that are very heterogeneous in their clinical manifestations. Basic external manifestations genetic diseases:

small head (microcephaly);
microanomalies (“third eyelid”, short neck, unusual shape ears, etc.)
delayed physical and mental development;
changes in genital organs;
excessive muscle relaxation;
change in the shape of the toes and hands;
violation of psychological status, etc.

Genetic diseases - how to get advice in Germany?

Conversation in genetic consultation and prenatal diagnosis can prevent severe hereditary diseases transmitted at the genetic level. The main goal of genetic counseling is to identify the degree of risk of a genetic disease in a newborn.

In order to receive quality consultation and advice on further actions, you need to be serious about communicating with your doctor. Before the consultation, you need to responsibly prepare for the conversation, remember the illnesses your relatives suffered, describe all health problems and write down the main questions to which you would like answers.

If the family already has a child with an anomaly, with congenital malformations, take his photographs. You definitely need to talk about spontaneous miscarriages, about cases of stillbirth, about how the pregnancy went (is going).

A genetic consultation doctor will be able to calculate the risk of having a baby with a severe hereditary pathology (even in the future). When can we talk about high risk development of a genetic disease?

a genetic risk of up to 5% is considered low;
no more than 10% - slightly increased risk;
from 10% to 20% - average risk;
above 20% - high risk.

Doctors advise considering a risk of about or above 20% as a reason to terminate the pregnancy or (if one does not exist yet) as a contraindication to conception. But the final decision is made, of course, by the married couple.

The consultation may take place in several stages. When diagnosing a genetic disease in a woman, the doctor develops management tactics before pregnancy and, if necessary, during pregnancy. The doctor talks in detail about the course of the disease, life expectancy with this pathology, and all the possibilities modern therapy, about the price component, about the prognosis of the disease. Sometimes gene correction during artificial insemination or during embryonic development allows you to avoid manifestations of the disease. Every year, new methods of gene therapy and the prevention of hereditary diseases are being developed, so the chances of curing genetic pathology are constantly increasing.

In Germany, methods of combating gene mutations using stem cells are being actively introduced and are already being successfully applied, and new technologies for the treatment and diagnosis of genetic diseases are being considered.