Genna therapy. Genna therapy in Russia: three rocks to the message

Genna therapy is the goal of reducing, non-dropping, as well as introducing into the patient's clientele the first genes. By the method of therapy є usunenia of genetic defects or giving new functions to the clients. It’s easier to introduce a healthy gene into a healthy cell, but not to correct a defect in a healthy one.

Genna therapy is surrounded by dosages in somatic tissues. The price is tied together, so be it involved in the state and embryos of the cell, you can give an absolutely incomprehensible result.

Zastosovuvan in Danish hour, the technique is effective for the treatment of both monogenic and multifactorial illnesses (malignant puffiness, deyaki vid and important heart-damned, vyrusnyh zhvoryuvan).

Closely 80% of all projects in gene therapy are worth VIL-infections. In this day, there are such diseases as hemophilia B, cystic fibrosis, and hypercholesterolemia.

Likuvannya transferє:

· Vidіlennya and reproduction of okremikh types of client's clients;

· Introduction of alien genes;

· Vidbir clitin, in which an alien gene has taken root;

· Implantation to a sick person (for example, blood transfusion for help).

Genna therapy is based on the introduced cloned DNA in the tissue of the sick. best effective methods at the same time, there are іn'ktsіynі and aerosol vaccines.

Genna therapy pratsyuє in two directions:

1. Lіkuvannya monogenic illnesses. Before them, a defect in the brain's robots, which is tied to be-like smart cells, which is viroblyayut neuromediators, is introduced.

2. Lіkuvannya The main steps, as vikoristovyutsya in tsіy galuzі:

Genetically not sophisticated immune cells;

· Advancing the immunoreactivity of the chubby;

· Block of expression of oncogenes;

· Zachist of healthy cells from chemotherapy;

· Introduction of gen_v-suppressors of pukhlini;

· Vyrobnitstvo protyphlinnyh speeches with healthy cells;

· Production of anti-inflammatory vaccines;

· Locally creating normal tissues for additional antioxidants.

Vikoristannya gene therapy has a lot of pluses and in some cases є One chance for a normal life for ailing people. Protest, the area of science is not vivchen until the end. International fence for viprobation on state and preimplantation embryonic cells. It is done with the help of the zapobіgannya odd gennyh constructions and mutations.

Broken and grounded in deyaki umovi, for those who are allowed to use vip testing:

Gene, transfers in klіtini-mіshenі, maє but an active trivial hour.

In an alien middle-class, the gene is guilty of securing its efficiency.

Gene transfer is not to blame for negative reactions in organism.

There is a number of meals, as they become very relevant for everyone in the world:

What can you do to work in the field of gene therapy, to develop more gene correction, so that you do not become a threat to the offspring?

What would be the need and consistency of a gene therapy procedure for an environment of friendly bets to overturn the risk of being involved for a possible people?

Qi vypravdani such procedures, vrahovyuchi in the future?

What rank will it be to carry out similar procedures on people with nutrition for homeostasis of the biosphere and suspension?

In a visnovka it is possible to conclude that genetic therapy for happy step I will proclaim to the people the way of love of the Nayvazh ailments, as they have recently been brought in as nevilikovny and deadly. However, at the same hour, the development of the whole of science is to be put before new problems, which are necessary for the present day.

Do you know if there is a drug for gene therapy in our country? The whole drug has been successful in widening the disease, and since 2012 it has been sold on the territory of Russia. And the drug itself is vіtchiznyany, moreover, it is only one in its kind, analogous in the light of Germany. Typical reaction of the people, as it seems to me for the first time: "That nothing, you can’t be such a bootie." You can't, ale buvaє. Tell the readers about the drug, having given the name "Neovasculgen", we asked for a candidate of medical sciences Roman Vadimovich Dєєva, Director for Science.

Idea and connection

The idea of storing plasma gene constructions for the induction of the growth of sudins for therapeutic purposes, obviously, should not be established by the Institute of Stovbury Clitins of People. The history of nutrition was at least two dozen rocky - pioneers here were Dr. Jeffrey Isner and his co-authors (USA), who spent a lot of time before, a match for one patient, they reported 90 for three results. In most cases, there are some other traces, but a specific rosette is laid down in the basis of the drug, Russian. Plasma design, as a substitute for the gene of the factor to the growth of sudin, was created and in 2007 patented two factions: good knowledge to the readers of "Chemistry and Life", Doctor of Biological Sciences, Professor S.L. I. Vavilova) і Doctor of Biological Sciences, Professor A. V. Itkes (Russian University of Friendship of Peoples).

However, it is not a skin idea, as it is extremely beautiful and theoretically true, to get involved in life. In the first place, medicine is fond of, if it is conservative in times of consumption, it is more important to say that it is “more beautiful - the thief of the good”. First of all, how they put it on, how does it work for the robot: what is an uncomfortable problem? De Vona may be needed and what needs to be done?

Atherosclerosis of the brain is the price of the ringing of the arteries through the increase in cholesterol and other words, which can lead to ischemia - the destruction of the blood supply to the organs and tissues. Everybody hears the ischemic ailment of the heart - one of the main causes of mortality in the world: atherosclerosis of coronary arteries can cause damage to the heart muscle, possibly there are traces of angina or infarction. We didn’t want to fix our last bit of ailment in the heart. To the attention of the central problem and to actively and successfully complete the work of the surgeons, likiv small groups, such as myocardial growth. It’s obvious that I don’t have to talk about getting over the infarction, but it’s not the same area, de new drug buv bi-spirits with entusiasm.

We began to think, as if ischemic fell ill with the social significance of the sutta, and they guessed the term that would be familiar to the skin medical student: "culpability" is a symptom of ischemia sudin lower kintzivok... The sound of the judges does not skip shelter until the muffs - the shkira is dry, the feet freeze, while walking, pains in the legs are repaired, and the people are snarled and resigned. It is not scary to sound nachebto, however, the problem is not less significant, below is myocardial ischemia. And perhaps, and more, to that, they come much less respected by the vendors of diagnostics, and pharmaceutical companies, and social organizations. Tim for an hour more than walking - deprived of the ear. Ischemia will inevitably be progressing, painless distance to speed through the kilometer (as well as the classy stage of ailments) up to 200 m less, then feel pain in calmness, and far away - vividly necrotic tissue

Today's symptoms seem to be about a pandemic of atherosclerosis, and Russia has not been spared the pandemic. Riziku factor for the general ailment good vidom: chicken and alcohol, not enough physical activity, Unbalanced eating, stress. Rizik is a food for hypertensives, people with an overworldly whale, who are hungry for diabetes, for those quiet, who have an increase in cholesterol and special lipoproteins in their blood. I have a weakness to atherosclerosis: to talk about it, as if a sick person had blood relatives-cholovik, who died from an infarction or an insult to 55 years, and women - up to 65 years. Choloviks are more sick before the early development of atherosclerosis, lower women, and for all risky children grow up.

Chronic ischemia of the lower children (HINK) in all sorts of people are suffering from close to two hundred millions of individuals. There are statistics of common illnesses in the United States, in the lands of Europe and the Great Patriotic War. Dani across Russia, like є, ale even more approximate. Most of the problems with the collection, the processing and the expanded information, and the observational folding. Supposedly, myocardial infarction in all statistical sounds is written in a row, but it is simple to write. Ale yak vrahovuvati HINK? At the early stages of the disease, children often do not turn into lesions. As well as vrahovuvati problems, with necrosis and amputation, then it is not possible to see those drops, because the cause of amputation is, for example, diabetes or injuries. Vzagalі apparently, the whole set of statistics to finish the sums. Pidrakhovano, only in the United States in the United States there are close to 150 thousand amputations. In our land, according to the assessments of physicians-experts, - from 45 thousand to 150 thousand per river, I will protect the health and culture of the turbot for my health.

For approximate data, there are close to 300 thousand people in Russia who will recognize the diagnosis "chronic ischemia of the lower symptoms". As a rule, all people at the age of 55-60 are older, ale and early fall. Mi vazhaєmo, for everything in the country to live from a million to two million of huge people from a crowd of ills. The prognosis for them is unpleasant. If you talk about the most important stages, the third and fourth (pain in calm and necrosis), then by extending the fate of the establishment of diagnoses, about a quarter of them are dying through the progress of atherosclerosis, including among the regressed anatomicals; a quarter of it is experiencing amputation, the fourth has no progress, and only the fourth has a successful medicine may want some stability.

Ti and i plasmid

How can there be a Sudin Surgery for such people? The simplest option - mechanically correct the judgment: replace troubled dilyanka with a prosthesis, or to open a path for normal blood flow. Ale in Pershe, approximately at the four children Anatomy Budova Sudin also, it is unfortunate to create surgical reconstruction. In other words, atherosclerosis does not depend on the enemy of great judges - it can be found in arteries lower than the line of the colony slope, in homilies. The diameter of the sudin is not great there, and the size is great, so surgical operation do not give a good result through thrombosis of shunts, growth of endothelium and so on.

If you cannot help the surgery, you will need medication injected. Ale pharmacology may not be used for miracles. The standard therapy for such patients is based on the use of drugs that increase the rheological power of the blood, and relax the tone of the vertebral column. If the ischemia becomes critical, go from another stage to the third and further to the fourth, add preparations of a group of prostaglandins, which expand other judgments. The blood will "fall through", the bloodstains of the fabrics will not be reddened, and the blood will fall into uniqueness. Ale dermatologic therapy should be repeated - to quiet fever, leave the judgment to react to prostaglandin.

Moreover, in Europe and in the New States, the drug cylostazol is registered. If the mechanism of this movement is not invisible, it is shown reliably. Cylostazol has been recommended until the end of the day in Europe and in the USA, but we have a unique situation: national recommendations according to the conduct of patients from the distress of the peripheral arteries ", even though there are no permits until the end of the territory of the Russian Federation. In addition, the European Medical Agency in Berezna 2013 released a press release, in which it spoke about the side effects of Cylostazol, which were tied to the wrecked robots. Now it is contraindicated to get involved in chronic heart failure. And tse strongly intertwined and th stasuvannya in patients with ischemia of the lower symptoms: the core in the middle of them is rich, atherosclerosis is a systemic phenomenon.

Having looked at the situation, we were able to see the situation, and then the developers were allowed to use the VEGF genome for the plasmid construct, - angiogenesis, stem de novo Sudin of the microcirculatory bed, - you can see it cinnamon. Naturally, we were not intimidated by the pretentious statements about the victory over ishemia. Our drug does not lead to atherosclerosis, but it doesn’t cause blood circulation there, but it’s damaged, and it allows blood to go to it. live rhymes clitin and tissue

Medical alcoholism, as I already zgaduvav, to finish conservatively, surgical - especially. Mi rozumili, scho we will have to fight for our righteousness. Neovaskulgen has been re-established in 2011, and it’s quiet for a while for a rosy robot — it’s been going around the country, held by conferences and symposiums, with the help of doctors, who were talking about the drug, and we’re getting rid of it in our time. ... As a matter of principle, at once to fix yourself. Behind the clinic, they approved the safety and efficacy of the drug for a significant part of patients. The results spoke for themselves (the reports about them were trifling), the stench was overkill for the experts, and the thought of the experts overtook the official ones. It has become zerous, it is an angiogenic therapy as a self-contained element complex treatment I have the right to know, and I think it’s fine, as much as a jeweler’s robot is to match the drug for specific clinical situations: it’s necessary to have intelligence, who has indications in the first place, since the next stage of drug reconstruction is due to

Years in the world is allowed up to the basic consumption of all five gene preparations: three for treatment evil new creatures, Quarter - a gliber, for the treatment of a terrible recessive illness - a deficiency of lipoproteinlipase, and our neovasculgen. It is necessary to be smart about genetic therapy. Likuvannya recessionary ailments transferє I will push the whole line of problems in the genome. So, even the gliber and the other preparations, which have not yet entered the market, albeit nezabar, ymovirno, appear. We also need to deprive them of the time-based induction of angiogenesis - our genetic design is practical in cells from 10 to 14 days, starting the process of growth of the brain and later on. Nі about yake "involved in the genome", slyly, say not to be brought.

The drug itself is to be administered mіstsevo, in tі dіlyankas, it is necessary to virostitize new sudini. Behind the cordon, similar constructions were injected internally and internally arterially, there was no particular sense in the whole: upon contact with the blood, the preparation quickly ruined. Well, well, I’ll take care of that: the plasmid cannot be consumed in the distance from the body to the body and not to start the process of angiogenesis there, no matter what.

To use gene therapy drugs for lykuvannya chronic ischemia lower pictures, left on the market є only neovasculgen, but in a ten hour it may appear and іnshі. The company "Sanofi-Aventis" went out of the distance, sponsoring a clinical trial of a plasmid construct with the genome of a factor for the growth of fibroblasts. Fibroblasts take a part in the dose of judgment - they climb around the tube endothelium and form a muscle wall, altogether not the process, but the onset of the stage. To try to spur fibroblasts with a bulky idea, and it was not successful. However, at least a dozen additional events are held in the region, some of them have passed from another to the third phase of clinical viprobuvan. To reach the distance, the Japanese have completed their last preparation. This plasmid is similar to ours, albeit in the capacity of a therapeutic official in the ny vikoristany gene for the growth of hepatocytes HGF (hepatocytes - cells of the liver, albeit in this type of block, unimportant in the name, stimulates the growth of the same judge). In Japan, the stinks have successfully completed the third phase, they did not start restructuring, circulating and selling the drug, they knew about the investments, how to organize the mainstream wine in the USA and replace the small market in the middle of the country of food in the global.

Yak tse pratsyu

The speech line of neovasculgen - plasmid is active, so that the DNA molecule is closed in the ring. To carry out її biotechnological method: klіtini intestinal stick Escherichia coli To live in a bioreactor, copy the plasmid in bagatoraz, then see and clean it. Plasmida to take revenge on the human gene vegf, Yakiy code block - endothelial growth factor of sudin (VEGF - vascular endothelial growth factor; endothelium here - vascular endothelial growth factor). A lot of isoforms, in this particular type of VEGF165, are stocked with 165 amino acids. It has been shown that the very same little block of the best is hard to stimulate the subtype of the udder cells.

The drug is administered to patients in the ailment of the leg with injections. Plasma penetrates into cells of ischemic tissue, which repair the synthesis of blocks by the "armchairs" of the gene. Not all of the DNA will appear in the middle of the cell, but the drive for the rest of the day is not here: the hour of life of the cell is in the body, the pose of the cell - dozens of quills, while the enzyme is being pumped, so the genetic structure of the tissue is not to be consumed in the future ...

Clients are repairing synthesizers and videos of VEGF165. Wine penetrates into the vessel bed and engages in endothelial cell receptors. Tse team: "Fix it, viroshuvati here is a new vessel." Clients are actively involved, playing in a wide range of fabrics and repairing the shape of a new tube of judgment, an ordinary way for blood. It’s not a folding process, there’s no new road going on: it’s necessary to organize the transport from the main highway, to clear the road, so that to open up the fabrics on the way of judgment. Zrozumіlo, a tube, which is stored from endothelial cells, is guilty of being pulled up by a ball and fibers with good fabrics... As a result of the bloodstream of innovations, the fabrics again and again become preoccupied with sour and life-giving words - ischemia of the entrance.

results

Our drug passes through all stages of key viprobuvan. In Russian normative documents, the stink is not called "three phases", but the sense of everything is not changed: the first stage is the assessment of security, the other stage is the significance of the reconnection mode, the most frequent side effects, the first data, the efficiency development of secondary effects and acceleration. Three organizations, in which there were conducted clinical tests, - tse Rossijskiy science center surgery of the name of B.V. Petrovsky, Ryazan State Medical University and Yaroslavl Region Clinical Medicine.

For the first stage, beckon to recruit healthy young volunteers. However, in our vipad the price would not be logical, there were still a few words about gene therapy. At the same time, we have a better understanding of the representatives of the supervisory authority (at that time, in 2009, the Federal Service for Visibility in the Sphere of Health Protection, now the function of restoration drugs transferred without preference to the Ministry of Health Protection): healthy people The gene construct is not to be injected, it is necessary to take a first step with a cob of another and to carry out an assessment of the safety on the patients. Such a solution does not have anything unviable: in all the light of strong drugs, for example, that is vicarious in psychiatry, it is not tested on healthy volunteers.

The drug was tested at the other and third stage of the HINK after A.V. Pokrovsky-Fontaine's out-of-home classification. Stage 2a - the patient can walk close to a kilometer, and the distance can be repaired more. Already at the first stage in the metabolism of meat fibers, non-vascular changes are observed. Stage 2b - painless distance 200 meters or less, and the third stage, if we are talking about critical ischemia lower symptoms - pain in peace, while sitting and lying. At the same stages of infection, the congestion of neovasculgen is shown - so it is practical for all, with the blame of the first, asymptomatic, if the patient does not know what ailments, and the fourth, necrotic, if the vines and gangrene occur. However, there were drops, if the drugs prescribed the drug and at the fourth stage, I see the therapy, I curl up at the instructions. To this, the effect is to overturn our most optimistic performances.

Doctors, who took their fate from key viprobuds, as a rule, repaired them with colossal skepticism. For the sake of the surgeon, she translated dozens, even not hundreds of important patients, perfectly representing all the possibilities of therapy, and prognosis, to smell the sickness as if it was an innovation injections - a reaction that was not important. And then pass two tizhni, moon dzvinok, and the doctor even: "I have a patient throwing the police and independently go to the third on top." Such a history became in Rostov-on-Don, deconfirmed the effectiveness of the drug due to the certificate of Doctor of Medical Sciences, Professor of the Rostov State Medical University, Ivan Ivanovich Katlnitsky. The drug was contracted in Ukraine, in Ukraine, because it was done not for the least, and perhaps, with great discontent, not among the Russian colleagues. Not long ago I cut out from one of them an electronic sheet with the heading: "Tse bomb!" - plastering of wines with the results.

Immediately I mean that miracles of history, unfortunately, are not caused by skin ailments. Yak і for any drug addict, є category of patients, who do not qualify for therapy with neovasculgen. Mi namagaєmosya rozіbratis, what so vіdbuvaєtsya, and here it is possible to correct. In addition, not all patients suffer only from atherosclerosis: someone has a problem with diabetes, or someone develops thromboangiitis (Burger's ailment), but it’s, of course, the result is overwhelming. Approximately 15% of ailments react to abuse in the wrong way, even if they wanted to, - even or even slightly. However, the check is a positive trend, and it can be seen that it is more important than ischemia, because it is more important than the twists and turns of the key effect. Deyakikh ailments sposterіgaєmo already two or three rockets. Colleagues from Yaroslavl (I. N. staroviriv, Y. V. Chervyakov) have provided statistics on chotiroh rocky - mi bachimo, who can hardly walk 50 meters, through two rocky viruses on long walks, painless distance of the grown-ups. Buv vartiy uvagi vipadok i na early stage: The patient, a passionate mischief, did not get pain in the legs after a first kilometer, and he added the drug himself. Infection of a lyudin field on an elk, pass at a fast pace with a lot of kilometers.

Within the framework of the classroom education, the patients were trained by opiuwalists, who allow them to evaluate changes in the quality of life. There were a bunch of scales, which were brought up to two components: physical health and psychological well-being. Having lost, the physical component is based on even better reliability, it can be seen on the application of this distance of painless walking. And the axis of psychological training, although there are no significant differences, did not reach statistically significant results. Maybe, on the right, when I’m walking my feet all the same fix the ailments, but I want it, I don’t feel sick, but maybe it’s important for people to feel good about important ailments and frowning prospects, and all the trouble I’m growing up about seem. Tsіkavo bulo will correlate the results for the cim indicator in інshih lands.

Power supply price

How much money is a drug, will you have a problem with a drug? The drug is, unfortunately, expensive. The exact prices in the statistics lead to a little sense, it is simpler to wonder on the Internet, but to settle the demand for a sum of about one hundred thousand rubles per package. Yaksho vrahuvati, the course of prostaglandins in the middle is close to 40 thousand rubles, and if repeated is necessary for the skin, but the effect of the neovasculgen is taken to see and see a little, then the picture is not two or three. Why is Ale still so dear?

The axis is seemingly driven by our general director, a perfect benchmark given directly A. A. Isaev: “Neovasculgen is the first drug in the class, which means great investments: rocky advances, not easy to work with regulators and winners on the market. And on the way, there are not many doses of the drug, as long as it does not become a widespread practice. Sound and price on original boxes in original copies and so-called generics. The price, the uniqueness and the wide range of tight knitting. That is why our zavdannya is not only to develop the drug, but to make it available to everyone. Mi Bagato Pratsyumo Nad Tsim ".

From our point of view, bazaniy option for the development of podіy - the inclusion of neovasculgen before the transition lykarsky zasobiv They can be purchased for a federal budget or regional budget and given to patients who require such treatment. The solution is economically primed: it’s not marvelous, a patient with one leg, or even without them, can do it more dearly, no purchase of a drug that will allow the amputation to be eliminated. Deyaku nadiyu yes and those who are neovasculgen officially є "an innovative drug", so that inclusions to the general lists as a priority and meritorious reception from the side of the state.

Zrozumіlo, but the performance of neovasculgen cannot be too low. viroshuvannya E. coli in bioreactor, manipulation with it, seeing and purification of plasma, preparation lykarskoy form, Quality control - all the process of qualified personnel, expensive and add reagents. Ale tsikavo, that the ownership of only a virobny part in Russia is approximately at all the races, but not the same, perhaps, in Izrailia. The reason is simple: і possession, і vitratic materials - all of us are imported, as well as vitrati. In addition, investment in the classroom viprobuvannya, in the investment of drugs, it is necessary to pay back in steps. Our distributor, the Sotex company, has its own interests and is one of the companies that belong to the Protek group on the pharmaceutical market. Їх robot is also necessary, because of the stench of supplying the drug in the region, which is available to more than one of the capital's residents.

Mi, from svogo side, robimly all zusilla in order for the drug to confirm its effectiveness in the course wide sucking, - well-being conducted by visiting, organizing, round style, spilkuєmosya with likars, we are ready to eat. Wonder at the map of the Russian Federation, I can also name the fahivts from the court surgery in the skin region. It is not possible to say that this is a parade of single-mindedness - the skin practitioner has a certain amount of information and his own way of showing and proofing. I don't know about the drug, it’s worth stopping, and it’s a smut for us. If є the results and the stench are overkill for the expert in the art of sports in a particular region, it’s easier to change it with officials. As soon as everything goes into the distance, in the arsenals of the judiciary's surgeries, a new red instrument will not appear without a bar.

Genetic ailments are diseases that are found in humans through chromosomal mutations and defects in genes, so that in a declining cell apparatus. Possibility of the genetic apparatus to lead to serious and versatile problems - deafness, deadening of the gap, fixation of psycho-physical development, without problems and problems.

Understanding chromosomes

The skin cells have a nucleus, the main part of the chromosome. The set of 46 chromosomes is the caryotype. 22 bets of chromosomes are autosomes, and the remaining 23 pairs are statute chromosomes. The axis of the multiple state chromosomes of the cholovik and the female is derived one by one.

In all cases, females have a chromosome storehouse - XX, and choloviks - XY. When a new life is diagnosed, the mother transmits the X chromosome, and the father - either X or Y. The chromosomes themselves, in the first place, are the pathological ones, and the genetics become ill.

Gen may be mutuwachi. If it is recessive, then mutations can be transmitted from generation to generation, but they are not manifested. If the mutation is dominant, then it will be necessary to manifest itself, it will be necessary to ensure that your child is born, having immediately learned about the potential problem.

Genetic illnesses are a problem of the modern day.

Reciprocal pathology with cutaneous rock appears more and more. Genetic ailments are already at once more than 6,000 times, the stench is tied both with some and with some changes in the genetic material. For the tribute of the All-Holy Organization for the Protection of Health, approximately 6% of children suffer from recessionary incapacitation.

Most likely, genetic illnesses can manifest themselves through a splinter of rock. Fathers are happy with a healthy baby, not susceptible to sickness. So, for example, deyakі fall illnesses can declare about themselves in that vіtsі, if at the very ailment there are children. The first half of all children can be accounted for as the father carries a dominant pathological gene.

And even if it is enough to finish the nobility, the child's organism is not an element of life. If the daddy will always be in order to improve, then in the fake, simply unique products, to avenge the components, it is possible to cleanse the organism from the manifestation of genetic ailments.

It is even more important to test for genetic ailments in case of planned vaginosity. If the test will show the transmission rate of a mutated gene in a child, then in the clinics of a child it can be performed a gene correction in case of a piece delay. The analysis can be done every hour of vaginosity.

At Nimechchina you can get a prop Innovation Technologies The most stable diagnostic tools, which can develop all your information and suspicion. Nearly 1000 genetic diseases can be found before the birth of a child.

Genetic illnesses - what do you see?

We can see two groups of genetic illnesses (for better reason)

1. Ailments with genetic schism.

Such ailments can manifest themselves under the influx of new factors of the middle and even lie in the form of individual genetic schism. Deyakі ailments can appear in a person who is abducted, and іnshі can appear unsupported and early. So for nothing, hard blow on the head, you can provoke epilepsy, while indigestible product can be caused by a bursting allergy, etc.

2. Ailments that develop with the presence of a dominant pathological gene.

Such genetic illnesses are transmitted from generation to generation. by the way, myazova dystrophy, Hemophilia, six-fingered, phenylketonuria.

Family of children with genetic diseases.

Yakim family in Pershu need to see genetic counseling and find out about the potential for low-grade sickness in offspring?

1. Blood spore sluts.

2. Without an independent ethology.

3. Vіk batkіv. Get into the factor of riziku, yaksho maybutniy mama more than 35 years, and fathers - more than 40 (for deyakim tribute - more than 45). As a result, there are more and more cases in statutory clientele, which increase the risk of the population of the baby because of the decline pathology.

4. Diseases of the same family, so that they are similar in two and more members of the family. Є ailment with severely swelling symptoms and symptoms, as well as a fall in the disease at the fathers do not get sick. Ale є signs (microanomalies), on which the father does not bear proper respect. For example, the non-inviting form of capital and vuh, ptosis, dancing on a brown color, a wonderful smell of slash, sweat, etc.

5. The obstetric history of obstetric anamnesis - the birth of a dead child, more than one spontaneous wicked day, died of vaginosity.

6. Fathers є representatives of innumerable ethnic groups, for example, from one small locality(In the whole of the temporal area, the number of blood spores)

7. The influx of unwelcoming by-run abnormal professional factors per person (lack of calcium, lack of food, robot in friendliness, etc.)

8. It is filthy ecological situation.

9. Vzhivannya faces from teratogenic powers before the hour of vaginosti.

10. Ailments, especially viral etiology (rubella, vitriana vispa), which suffered from vagina.

11. unhealthy way life. Post-stress, alcohol, chicken-feed, drugs, nasty food can get rid of genes, so as the structure of chromosomes is injected unwelcoming minds can zm_nuvatisya stretching out the life.

Genetic impairment - what are the methods for the purpose of diagnostics?

In Nicholas, the diagnosis of genetic illnesses is highly effective, since all kinds of high-tech methods and absolutely all possibilities of modern medicine (DNA analysis, DNA sequencing, genetic passport, etc.) Buy on the most popular.

1. Kliniko-genealogical method.

The whole method is important for the understanding of the diagnosis of genetic discomfort. What to enter into a new one? Persh for everything, report of the patient's experience. As soon as you get sick on the fall, it’s not just the fathers themselves, but all the relatives, to get more information about the skin member of the family. In a small warehouse there is a kind of family due to all the signs and ailments. The whole method ends with a genetic analysis, on the basis of which the correct diagnosis is put and the optimal therapy is selected.

2. Cytogenetic method.

The managers of this method start with ailments, which are diagnosed due to the problems of the chromosomes of the cell. The cytogenetic method is used to determine the internal structure and growth of chromosomes. Tse duzhe simple technique- take zishkrib from slizovoy internal surface cheeks, then look through the glass under a microscope. The whole method is carried out among the fathers, among the members of the family. A type of the cytogenetic method - molecular-cytogenetic, which allows for the formation of changes in budov chromosomes.

3. Biochemistry method.

The Danish method, before the biological age of mothers (shelter, sludge, pit, I cut, etc.), may be due to the decline in ailments, in the basis of which there is a broken exchange of words. One of the most common genetic ailments associated with metabolic disorders is albinism.

4. Molecular genetic method.

The price is the most progressive method in Danish hour, which is the beginning of a monogenic affliction. It is even more accurate and the pathology is found in the last of the nucleotides. Using this method, it is possible to increase the genetic strength before the development of oncology (cancer of the shlunk, uterus, thyroid gland, Prostate, leukemia and ін.) That is especially indications to persons who may be close relatives suffered endocrine, psychic, oncological and damnable.

For diagnostics of genetic ailments at Nimechchina, you will be prompted for the whole range of cytogenetic, biochemical, molecular genetic diagnostics, prenatal and postnatal diagnostics plus neonatal screening of a newborn. Here you can pass close to 1000 genetic tests, which are admitted to the clinical registration in the territory of the country.

Viability and genetic discomfort

Prenatal diagnosis gives great flexibility for identifying genetic ailments.

A prenatal diagnostician should include such a prenatal diagnosis, such as

chorion biopsy - analysis of the tissue chorionic membrane of the fetus for 7-9 tension; biopsies can be seen in two ways - through the cervix of the uterus, or by way of puncture of the anterior cervical wall;
amniocentesis - for 16-20 tons of vaginosity, to recognize the near-mature age of the anterior cervical puncture;
cordocentesis is one of the most important methods of diagnostics, so as to complete the fetal roof, I will cut it off from the umbilical cord.

There are also screening methods in diagnostics of viciousness, such as triple test, fetal echocardiography, alpha-fetoprotein evaluation.

Ultrasound imaging of the fetus in 3D - and 4D sizes allows for the rapid development of the population. All methods are low-risen side effects and do not be negatively implicated in the overload of vaginosti. As soon as it is genetically ill for an hour of vaginosity, the drug proposes a singular individual tactics for managing a vaginal woman. In the early period of vaginosity in Nymetsk clientele, it is possible to predict the genetics of the disease. As soon as the correction of genes was carried out in the early period, then it is possible to eliminate genetic defects.

Neonatal screening of a child in Nimechchin

Neonatal screening of a newly born child who is most genetically ill in a newborn. Early diagnostics allows intelligence, but the child is sick before the first signs of ailment appear. In such a rank, it is possible to develop such a decline in illness - hypothyroidism, phenylketonuria, maple syrup ailment, adrenogenital syndrome and іnshі.

As soon as there are ailments, then the chance to reach them is very high. Yakіsny neonatal screening can be one of the reasons, through how women arrive in Nіmechchyna, so that the child will come here.

Lіkuvannya genetic illnesses of people in Nіmechchyna

Still more recently, genetic ailments have not been caught up, they have been fond of the ill-fated, and therefore hopeless. To this, the diagnosis of genetic incapacitation of roztsinuvsya yak virok, and in short, it is possible to rozrahovuvati only on symptomatic treatment. The infection of the situation changed. Progress is remembered, positive results have appeared, moreover, science is gradually coming to light effective ways lykuvannya spadkovykh ailments. I would like to have a lot of ailments and ailments this year, but it’s not a good idea for the genetics to marvel at optimism.

Lіkuvannya genetic illnesses are even a folding process. Win primed on the same principles of inflows, like and whether or not ailments - ethiological, pathogenetic and symptomatic. Briefly on the skin.

1. Ethiological principle of the development.

The ethiological principle of the work is the most optimal, since it is straightforwardly directed at the cause of the ailment. Tse reach for the help of methods of gene correction, seeing a piece of DNA, cloning and introducing it into the body. At the current moment, the price is still foldable, but with some illnesses it is already there

2. The pathogenetic principle of diy.

Lіkuvannya are focused on the mechanism of development of ailments, so that there are changes in physiological and biochemical processes in the body, assimilating defects, viciousness of the pathological genome. In the world of development of genetics, the pathogenetic principle is constantly expanding, and for the development of diseases with skin rock there will be new paths and opportunities for the correction of damaged Lankans.

3. Symptomatic principle of diy.

By the same token, the principle of genetic illnesses treatment is aimed at the knowledge of pain and disagreeable manifestations and transient ailment progression. Symptomatic treatment is recognized depending on whether it is possible to adapt to the same methods in addition, or to independent and single methods. The tse of a sign of noxious drugs, zaspokylivyh, prototypal and іnshih lіkіv. Pharmacological promiscuity at a time is even more pronounced, so the spectrum of lykarsky diseases, which is stagnant for lіkuvannya (vіrnіshe, for lodging developing) genetic ailments, is even wider.

Krim drug therapy before symptomatic addiction to carry out the stasis of physiotherapeutic procedures - massage, іngalyatsії, electrotherapy, balneology, etc.

inodi stagnate surgical method lіkuvannya for correcting deformations, like callings, as well as internal.

Lіkarі-genetics Nіmechchini may already have a great dosage of lіkuvannya genetic illnesses. Whenever I develop ailments, from individual parameters to stagnate as follows:

genetic diagnosis;
gene therapy,
transplantation of stovburovich cells,
organ and tissue transplantation,
enzyme therapy,
replacement therapy with hormones and enzymes;
hemosorption, plasmaphoresis, lymphosorption - purification of the body with special preparations;
surgical treatment.

Obviously, the treatment of genetic ailments is trivial and do not expect success. As soon as the skin rock is growing, the number of new approaches to therapy is growing, so the improvement is optimistic.

gene therapy

Special hopes of medicine and in all sorts of people will pay for gene therapy, the staff of which can introduce some genetic material in the sick organism.

Genna Korektsia will be built from the onset of stages:

rejection of genetic material (somatic cells) from a patient;
introduction into the whole material of a lyuval gene, which is a corigene defect;
cloning scored clitins;
vprovadzhennya new healthy cells in the body of the patient.

Genna korektsiyya vimagaє great protection, so as science is not yet in its own order in general information about the robot of the genetic apparatus.

List of genetic ailments that can be affected

The classification of genetic ailments is rich, the stench is clever and developed according to the principle of encouragement. Below is a list of the most widespread genetic and recessive ailments:

Gunther's ailment;
Keneven ailment;
ailment Niman-Pika;
Tay-Sachs ailment;
ailment Sharko-Mari;
hemophilia;
hypertrichosis;
color blindness - color blindness to color, color blindness is transmitted only from the female chromosome;
Oman Kapgras;
Peliceus-Merzbacher leukodystrophy;
line Blashko;
micropsia;
cystic fibrosis;
neurofibromatosis;
reflexion is aggravated;
porphyria;
progeria;
splitting of the ridge;
Angelman syndrome;
vibuhaє head syndrome;
blakitis syndrome;
Down syndrome;
living corpse syndrome;
Joubert's syndrome;
kam'yanogo people syndrome
Klinefelter's syndrome;
Klein-Levin syndrome;
Martin-Bell syndrome;
Marfan syndrome;
Prader-Villi syndrome;
Robin's syndrome;
Stendhal's syndrome;
Turner syndrome;
elephant ailment;
phenylketonuria.
cysero і іnshі.

At a number of distributions, they are given a report on the skin disease and the disease, as it is possible to find out about them. A little more beautifully to overcome the genetic illnesses, not just ailments, more often than not, ailments are not known to medicine, like vilikuvati.

Genny ailments - the whole group of illnesses is not uniform for its own key manifestations... Main manifestations of genetic illnesses:

small head (microcephaly);
microanomalies ("third povika", short, non-invisible form of vuha, etc.)
overlaying physical and rose-colored development;
change of statutory organs;
overwhelming weakness of the mucous;
change of the shape of the fingers of the foot and hand;
destruction of the psychological status and in.

Genetic ailment - how can you treat a consultation in Nimechchin?

Discussion in genetic counseling and prenatal diagnosis of ailments in case of severe recession, which can be transmitted to the gene rivna. The main meta-consultation in a geneticist is a step of the rhizik in a newly born genetic ailment.

In order to be able to trim it out as a consultant and glad to drive those who have been sent, you need to seriously adjust yourself to a spilkuvannya with a doctor. Before the consultation, it is necessary to prepare beforehand, to fix the ailments that the relatives have suffered, to describe all the health problems and write down the main nutrition, on how you would like to reject the information.

Iakshcho in the family is already a child with anomalies, with vodzhenny vads development, want to get this photo. There is a general requirement for a message about mimic wikis, about deaths, about those who have passed (pass) the vagina.

Likar genetic counseling to be able to develop a risky condition appear unimportant from an important decline pathology (see in the future). If you can talk about a viscous risik the development of a genetic disease?

genetic rizik up to 5% to be low;
not more than 10% - a slight change;
from 10% to 20% - average risik;
whische 20% - high risik.

Likewise, roztinuvati rizik close and food 20% as a result before the vaginosity, but (as such, it is not) as contraindicated before conception. Ale the residual solution is accepted, vividly, a friend of a couple.

Consultation can take place in a number of steps. When diagnosing a genetic discomfort in a woman, the drug viroblya the tactics of keeping it up to vaginosity and, if necessary, for an hour of vaginosity. Likar will tell you in detail about getting overwhelmed, about the triviality of life in the presence of pathology, about all the possibilities happy therapy, About the price of warehousing, about the forecast of the disease. Inodі genna korektsіya before the hour of the piece delay, or during the period of embryonic development, it is possible to eliminate the manifestation of ailments. With the cutaneous fate, new methods of gene therapy and prevention of deciduous illnesses are being developed, so the chances of developing genetic pathology will gradually increase.

Nimechchina has been actively promoting and already successfully stuck methods of fighting against genetic mutations for additional stubbrow cells, looking at new technologies for the elimination and diagnosis of genetic diseases.

The market for gene therapy has all the chances of becoming the best growing market in the world in the next 10 years. Prospects, which lead to genetic manipulation, motivate representatives of Great Pharmaceuticals not only to conduct their own decisions, but to actively buy the best companies.

Pharmaceuticals Novartis, judging by the US, may be on the cob to a wide range of gene therapy in the modern clinical practice: management of the sanitary look for the quality of food products and drug therapy (Food and Drug Administration, FDA) , I am suffering from lymphoblastic leukemia.

Lіkuvannya dopaaє to reach remіsії, and in some cases to navіtk to help get sick. ЗМІ already rightly baptized the tsyu podіya "new hero of medicine" - people behind the help of genetic manipulations step by step cope with nevilikovyh earlier ill.

Zgadaimo, scho called to the ear of "new eri" and wondered, where one collapsed from the most buzzing rinks.

Why did everything get fixed?

Approximately 15 years ago, let us “read” the genome and make it possible to correct the access to the “code of conduct” of the human body, which takes into account all the necessary information about it, and the smut - the control of one's life and death. Still a bit of rocky was known for those who comprehend the knowledge and actions to translate it into the region practical sucking: A handful in diagnostics, and sometimes in clinical practice.

For the remainder of 100 rocky cope with the pupils young people For every virus and bacteria, science has come to do good - thank you for vaccines and antibiotics, - for ailments, mutations in genes, for the last hour they were taken into account by non-volunteers. That is why the deciphering of 3 billion base pairs of nucleotides gave a truly indispensable perspective for the development of "medicine of the future" - in the first place of preventive genetic therapy, and, in the ideal, medicine will become more personnel.

Rinkov's expertise redefines areas of growing growth: the market for gene therapy for cancer is predicted at $ 4 billion by 2024, the market for gene therapy as a whole is at $ 11 billion 2025, and the forecasts for all professional medicine are more than $ 149 billion in 2020: up to $ 2.5 trillion by 2022.

The first fruits of the deciphering of the human genome were the more detailed diagnostics of the incidence of illnesses or schilosity before them. On the whole, the market of the so-called "living genetics" is rapidly developing rapidly - until 2020 the market will grow up to $ 12 billion.

Genetic tests give the patient the opportunity to carry out an analysis and know the "rotten geni" in their own organisms, either, navpaki, radii from every day. The amount of money to reach the road ($ 999-2500) was becoming more and more affordable in the world of changing sequencing. For example, price integrated dosage, Yake promoted this year one of the leaders of the world market, 23andMe company, to become $ 199. In Russia the price for cheap things: from 20,000 to 30,000 rubles.

In addition, in reality, old targeted therapy, which is especially important not only for low-grade illnesses, but for heart-sick and infectious ailments, as well as oncology - the leading causes of death in the world. Genetic manipulations allow a patient to enter a "good" genius, to compensate for problems, to wick the hacky robotic geni to "filthy" - for example, as in the case of hemophilia, but in any case, to allow for some kind of repair Gentington's neurodegenerative ailments. Leave the gene therapy loan to the pharmaceutical market to reach a modest place, ale її part of the loan will be unhealthy for growth.

It’s obvious, there’s no problem, such as demanding a version: price and high risik Immune reactions, as much as possible therapy, and, you can, you can find a genetic nutrition, tied to the changes introduced to the human body on the genetic basis. However, some kind of manipulation is a chance for patients, who are ill, or if they do not know it, or do not wait effective therapy for the help of new dreams, as well as a new growth in the struggle against the old, so that people hope for health when they are ready for a new day, and the market is new, where there is a lot of buzz for the future.

pershі peremogi

The program will start the activity at the moment of the statutory maturity and, more or less, unintentionally lead to death. Moreover, it is necessary to set the regulations of the process. In the skin species, there is a clear sense of life, such as a variety of assumptions. For Misha, for example, - tse, in the middle, 2.5 rock, for people - about 80 rock. With a whole lot of gryzuny, they live in a way that is much better than a misha - for example, a big one, or a famous digger.

The main food of the field is in the one that can be connected to the old or want to be special. You can, take on the food chain in addition to the revolutionary technology, which has turned the line back, as a result of which Sin'ya Yamanaka, Professor of the Institute of Advanced Medical Sciences at the University of Kiev: -Myc, and all at once - OSKM, or Yamanaka factories), which are closely linked with the main stages of the life cycle of a cell, transforming somatic cells back into pluripotent. For a fair revolution in 2012, Yamanaka received a Nobel Prize.

Vikoristovuyuchuyu Yamanaka, a group of scientists from the Institute of Salk under the certificate of Juan Carlos Izpisua Belmonte (Juan Carlos Izpisua Belmonte) tried to fix the natural mechanism of zeroing the biological year for the advancement of life. I did not have mercy. For other factors, Yamanaka went into the background to confirm the hypothesis about the possibility of showing "epigenetic years", so that rejuvenating clients, and improving the average triviality of life for aging targets by 33% -50% in times of age

Nearly two hundred million inhabitants of the planet are potential candidates for gene therapy, and a few thousand have already become pioneer patients, and within the framework of viprobuvan, they have taken care of the same thing in the past. nevilikovnyh ailments... Candidate of Medical Sciences, doctor-therapist of the Laboratory of Regenerative Medicine medical center Moscow State University, Senior Scientist of Science Faculty of Fundamental Medicine, MDU, Reconstruction of "Science Fights" Politech - 2015 Pavlo Makarevich, explaining to T & P, as a practical genetic therapy and some problems to solve.

Pavlo Makarevich

200 million potential candidates is a lot. Up to half of the diseases, in some additional help of gene therapy, during the decline in the disease: hemophilia, immunodeficiency, accumulation ailments, enzymopathy, 25-30% of the diseases - the price cancer, Reshta 20% - all of them: cardiology, neurology, ailments of the nervous system and injuries, for example, a nerve problem, or even more important issues. Such a problem is tied to the fact that the decline in disease is important and often fatal inheritance, and there is not a lot of illusion in principle, behind the blame of gene therapy.

Yak likuvalny diyuchy speech In genn_y therapy, genetic information is studied, or rather the molecules, which are the essence: nucleic acids and RNA (older) and DNA (partly). In the case of skin cells є "xerox" - an express device - a mechanism, with the help of a cell, to translate genetic information into bibliography, which allows it to function correctly. That stan, if є the correct gene і good pratsyuє "xerox" (which is guilty of pratsyuvati zavzhdi, іnkshe taka kіtina is not published), from the point of view of gene therapy, you can cleverly name the health of klіtiny. Whether there is a library of cich originals - geni, such as a vikorist for correct expression of the library and normal functioning. In case of pathology, there is a possibility of neuro-manitic situations. For example, if there is a reason, an important original (gene) is involved, or a larger part, and it’s not a matter of fact. In such a situation, such ailments develop, such as, for example, Duchenne myodystrophy, which leads to a progressive parallel to all the muses of the body and end up dying at 25-27 years - as a rule, when there is a dystrophy.

The small butt is a small "breakage", not so fatal, let us not make it so far as this block is not practical - not a vicon of its biological function. If, for example, factor VIII of the throat of blood, then in humans, hemophilia develops. In both situations, our team is to deliver a “normal” copy of the gene to the tissue, working a copy of the gene, so that it’s the correct original in the copier, so it’s good to give the robot a friend and, perhaps, a healthy body so that it’s going to last. Chi pratsyuє tse? So, such a step is effective in experiments on creatures, and also to go through the stages of clinical viprobuvan on children, I want to go to see how difficult it is on the way to the winners.

We are also going to develop for the treatment of ischemic ailments, such as more widespread, lower pathology, but it’s crazy, for them there are simple and unreasonable ways of doing it. On the right in the one that is skinny, lyudin, yak vbolіvaє ischemic ailment In heart, abo kintzivok, it is early to appear in the camp, if the gene therapy can appear in the same way for a new way.

For additional gene therapy, there is a large group of illnesses who are tied to the lesions of the central nervous system - Parkinson's ailment, Alzheimer's, sick amyotrophic sclerosis. Snuyut the viruses, as the strength of the attack to the central nervous system, And the power can be victorious for the good. For example, the herpes virus lives in the nerves, and because of this, it is possible to deliver factors to the growth and cytokines in the nervous system, which will lead to the development of cytokines. Don't worry, if a virus is a virus, when a virus gets sick, it’s reluctant, to let it go, when it’s a pathogenic cause, it’s victorious, it’s a cassette, and the factor of growth is to capture neurons, it’s to bend it. It is such a rank to go, how viruses are, how to carry genes of factors in growth, to trust the progress of ailments and to continue the life of the patient.

For, for example, slapota is a camp that will add to the life of the people of healthy images. One of the reasons for dullness is the inherent Leber's atrophy, which develops through mutations in the RPE 65 genes. Nearly 80 people at once took away the minimum health of the genetics of the genetics of work - modified, in the affected tissues. yogo sensitivity to light.

How is the genetic information delivered to the tissue: locally, to a specific organ, or all at once to the entire organism? Є two options. The first is a tse plasmid, tobto k_ltseva DNA molecule. They are super spiralized, they are already small and compact, and they are “pakuєmo” in some kind of chemical polymer, so that they can be penetrated into the clit. What's the problem here? Plasma DNA in 12-14 days will be visible from the cells, and the product will be released. In such a situation, two solutions can be made: first - to introduce a supplementary dose of plasma DNA (fortunately, it’s not immunogenic), the other - to introduce this at once a number of genes (for example, to improve the effects of cytokines in short tissue regeneration) period of an hour, as long as there will be products of bіlkіv.

The Інshi vikhіd (about the new ones, they already guessed the visce) is the tse viruses. A collection of viruses are pathogenic, which can lead to sickness, but in our case, the stench can be victorious for the delivery of genetic information to cells. For the additional methods of genetic engineering, we can deprive the virus of the virus, so that it is believed to be a pathogenic action, having deprived its deprivation of those that are necessary for penetrating into the cell, and having informed us about the necessary information. Todi virus from zbroi is transformed into a cassette for the delivery of corona, positive genetic information.

We have two strangers to the method of gene delivery, and the virus is clearly visible to us, so we can also know its targets in the body: for example, the virus to hepatitis knows the liver, and the virus to herpes is neurons. Plasmida, Kiltseva DNA, pratsyuє tilki there, kudi її entered. Vinikak nutrition: why do I do it with plasmids, like a virus? The answer is as follows: virus immunogenicity, stench wicked immunity. І, yak option, the stench can be booty abo wan immune system before, how to wake up spratsyuvati, abo, like the best option, the stench can be vicious pobichna diya- strained immune reactions to the virus introduction. There is a tighter balance between efficiency and non-baking, which is the share of drugs, such as rozroblyaєmo, і, since the drug has shown itself to be not safe on stage rozrobka, tse deaf kut.

Prostrate, start and protest a new drug for gene therapy, laboratory or institute for guilt. Tse, m'yako it seems, not cheap, leave a piece of software, and protocols, if the stench is not sponsored by a retailer, even dear. Є Two or three drugs registered in Europe, one in Japan, and only one in Russia - "Neovasculgen", a drug for stimulating the growth of sudin.

The drugs that are used for gene therapy may not have previously been given pharmacokinetics, pharmacodynamics. The whole problem lies in the fact that at this point in time, even little information has been accumulated on the basis of certain drugs, as well as about special medications. Tse means that all risics tied with gene therapy are theoretically guilty of being rooted. Admittedly, we know that it is not necessary to take a thousand-fold dose of aspirin in practice, and it is not robust. Evidently gene therapy, some of them do not know the pharmacokinetics (and that means, the peculiarities of the drugs), my fault is that all the others may efekty, І tse strongly stretching the dosage per hour.

Another problem is that the skin preparation is of a unique type. This means that it is necessary to bring the security and efficiency to the unique models, but also the period, when you can say: “So, it is possible to be introduced into the market, but on the market, but it’s safe.” This is what I am concerned about, very rich in food and in the publicity of the people in the whole region, which, as in any drug-development, will accumulate a price of great problems: debilitating illusions, side effects. But I also know that the nutritional value of the vitrailous women has hundreds of previous and potential ways to help millions of people. In a given hour, there have already been accumulated information and lessons learned, which will help them to do so.