Is it possible to change a gene in adults? How and why does a person's DNA change throughout life? Now what to do

Can good or bad habits, diets and exercise affect children or grandchildren? Will our lack of sleep or extra glasses of champagne come back to haunt our descendants - what if, because of our unreasonable decisions, our children will develop a tendency towards alcoholism, diabetes or carpal tunnel syndrome? Look At Me presents the main arguments of genetic scientists, doctors and other specialists who answered this question in the Ask Science section on Reddit.

Does lifestyle affect DNA?

Although lifestyle does not affect the structure of DNA, it can affect the factors that regulate gene activity.

This phenomenon is called epigenetic inheritance: depending on what factors influenced the body during life, its offspring may or, conversely, may not manifest some properties that were originally embedded in the genetic code.

The structure of the genome itself, which is passed on to the offspring, can only be changed during pregnancy: poor nutrition, stress or illness suffered by the mother during this period can cause mutations at the gene level and damage to the DNA structure - for example, children can be born due to such mutations with an extra chromosome. But these changes are quite random, do not always occur and are often not related to the mother’s lifestyle. This is a gene abnormality that is difficult to predict before conception, but today future parents can be warned using prenatal diagnostics - the research program includes a special test that allows the fetus to be checked for 6,000 possible developmental disorders. The mechanism of inheritance outside the structure of the genetic code is studied by a special branch of science - epigenetics. The term itself was coined by the Englishman Conrad Waddington in the 50s. The scientist did not yet know how the human genome was structured, but he guessed the existence of a certain mechanism that controls the hereditary material of living beings. In the 1990s, when human DNA was deciphered, researchers remembered epigenetics and found confirmation of Waddington’s hypotheses. Nowadays, epigenetic (literally, “overgene”) inheritance refers to all changes associated with the phenotype or gene expression that appear in descendants in the first generation in living beings and in several generations in cellular organisms.

Scientists do not know exactly how inheritance occurs in living beings. To track the reasons for the manifestation of similar signs, you need to take into account an infinite number of factors: the conditions in which the animal grew and developed, environmental factors, ecology, cosmic radiation, and so on. Researchers can't say for sure what influences gene expression, and if you exhibit the same characteristics as your parents, it doesn't mean they were passed on to you genetically. Perhaps your phenotype is influenced by the climate, the rhythm of life in your hometown, or the consumption of foods familiar to your family.

It is especially difficult to describe the mechanism of inheritance of certain characteristics and character traits in people- unlike most animals, people in their development are highly dependent on society, and a child in the process of growing up is influenced by his relatives, peers, teachers, movie characters, and accepted norms and orders in society. Roughly speaking, if three generations in a family go in for sports, this does not mean that children inherit prominent muscles genetically: first of all, they are influenced by upbringing and the family tradition of spending evenings in the gym.

But what if not only physiological characteristics, but also behavioral patterns can be passed on from generation to generation? Thanks to this question, a new field has recently emerged - behavioral epigenetics. Scientists working in this field suggest that the lifestyle of the parent organism can affect the character and behavioral scenarios of the offspring.

In 2013, the authoritative journal Neuroscience published the results of experiments conducted on laboratory mice: researchers taught the animal to be afraid of the smell of cherry (they do not seem to explain the choice of aroma), and then observed the manifestation of the same fear in the offspring of this mouse and even subsequent generations .

We cannot know for sure what caused this: Perhaps the mechanism of genetic transmission of behavioral scripts is much more complex and manifests itself in mice completely differently than in humans. But biologists say that the ability to transfer acquired skills genetically would be a good accelerator of evolution, because in this way more advanced creatures would appear much faster than due to random gene mutations. If we believe that nature is logical, the transmission of behavioral patterns would be very useful for the development of living beings.

but are all behavioral scenarios passed on to offspring, or only those that were useful to the parent being? Fear is a manifestation of the instinct of self-preservation, which helps the mouse protect itself and the future of the population, and the habit of drinking alcohol, for example, has the opposite effect. Geneticists say that the presence of several relatives suffering from alcoholism in the family tree does not increase the chances of a child becoming addicted to drinking: most likely, his DNA will have a predisposition to alcoholism, but without the motivating influence of the social environment this gene will not manifest itself.

It turns out that the experience gained by the parents can still affect the offspring, but cannot change the DNA. Since epigenetic inheritance was discovered only recently, researchers did not have the opportunity to track it in several generations of people: now the phenomenon is being studied in mice, whose DNA structure is close to that of humans, and the rate of reproduction makes it possible to track gene expression in parents, children and grandchildren. But the question of projecting the results of experiments onto people remains open.

By playing sports or following the right diet, you do not change your genetic code, but use the capabilities inherent in it by nature.

You can compare this to game consoles: inserting different cartridges will give you different results, but without the console itself with certain technical characteristics, the cartridges mean nothing. In any case, taking care of yourself and your health is not a bad idea, even if the good habits developed so hard are not passed on to your children epigenetically.

Biohacker Joshua Zayner wants to create a world in which anyone is able and has the right to experiment with their DNA. Why not?

“We have some DNA and a syringe here,” says Josiah Zayner to a room full of synthetic biologists and other researchers. He fills the needle and plunges it into the skin. “It will change my muscle genes and give me more muscle mass.”

Zayner, a biohacker who experiments with biology in DIY rather than a conventional lab, gave a talk at the SynBioBeta conference in San Francisco, "A Step-by-Step Guide to Genetically Changing Yourself with CRISPR," where other presentations included academics in suits and young CEOs of typical biotech startups. Unlike others, he began his talk by handing out samples and booklets that explained the basics of DIY genetic engineering.

Biohacker Zayner gave a presentation at the SynBioBeta conference “A step-by-step guide to genetically altering yourself using CRISPR”

Zayner has a PhD in molecular biology and biophysics and has also worked as a scientist at NASA on modifying organisms for life on Mars. But he believes that synthetic biology for editing other organisms or yourself could become as easy to use as, say, a CMS for creating a website.

“You don't need to know which promoter to use to make the right gene or piece of DNA work,” he says, using some of the technical jargon from genetic engineering. “You don't want to know which terminator to use, or origin of replication... An engineer programming DNA needs to know how to do it. But the only thing you need to know is, I want the mushroom to be purple. It doesn't have to be any more complicated. All of this is entirely possible – it’s just about building the infrastructure and platform so that anyone can do it.”

Of course, the app store for genetic editing has not yet been created. But a fair number of biohackers have learned enough to—sometimes thoughtlessly—experiment on themselves. Several people Zayner knows, for example, have started injecting themselves with myostatin. “It's happening right now,” he says. “All of these things started popping up just in the last few weeks.” It's too early to tell whether the injections improved experimenters or caused problems, but some hope to see results in the coming months.

Despite his time in academia, Zayner is clearly not a typical researcher and eschews the idea that experiments should be confined to laboratories. When at NASA he began communicating with other biohackers through a mailing list, and learned about the problems of those who wanted to do DIY work - suppliers were difficult to find, and they did not always send the necessary orders to those who did not have a laboratory - he in 2013 started a business called The ODIN (Open Discovery Institute, and an homage to the Norse god) to send kits and tools to people wanting to work in their garage or room. In 2015, after deciding to leave NASA because he didn't like working in their conservative environment, he launched a successful fundraising campaign for a DIY CRISPR kit.

“The only thing you need to know is that I want the mushroom to be purple. It shouldn't be any more difficult."

In 2016, he sold $200,000 worth of products, including a yeast kit that can be used to fuel glowing bioluminescent beer, a kit for detecting antibiotics at home, and a complete home lab for the price of a MacBook Pro. He expects sales to double in 2017. Many kits are simple and most buyers probably don't use them to change themselves (many kits go to schools). But Zayner also hopes that as more knowledge is gained, people will experiment in more unusual ways.

Zayner sells a complete home biohacking lab for about the price of a MacBook Pro.

He questions whether traditional research methods such as randomized controlled trials are the only way to make discoveries, pointing out that in new personalized medicine (such as cancer immunotherapy, which is personalized for each patient), a sample size of one person makes sense. In his speech, he argued that people should be able to experiment on their own if they want; we change our DNA when we drink alcohol or smoke cigarettes or breathe dirty city air. Many socially sanctioned actions are more dangerous. "We donate maybe a million people a year to the car gods," he said. "If you ask someone, 'Would you like to get rid of cars?' - No." (Zayner has experimented in different ways, including an extreme DIY fecal transplant, which he says cured his digestive problems; he also helps cancer patients with DIY immunotherapy).

If you change your DNA, you can then have your genome sequenced to see if a change has occurred. But a garage experiment may not provide as much information as conventional methods. "You can prove that you've changed the DNA, but that doesn't mean it's safe or effective," says George Church, a professor of genetics at Harvard Medical School (who also serves as an adviser to Zayner's company, recognizing the value of a biologically literate public in the century biology). “All it does is tell you that you did the right job, but it could be dangerous because you also changed something else. It may be ineffective in the sense that not enough cells have been changed, or it may be too late and the damage has already been done.” If a baby is born with microcephaly, for example, the change in genes in his body will likely not affect his brain.

"We live in an incredible time where we are learning so much about biology and genetics thanks to CRISPR, but there is still a lot we don't know about the safety of editing human cells with CRISPR."

Anyone who wants to inject themselves with modified DNA is taking a risk without enough data - or perhaps any real data - about what might happen to make an informed decision. This probably goes without saying: don't try this at home. “We're living in an incredible time where we're learning so much about biology and genetics thanks to CRISPR, but there's still a lot we don't know about the safety of editing human cells with CRISPR,” says Alex Marson, a researcher in microbiology and immunology at the University of California. in San Francisco and an expert on CRISPR. “It is vital that it goes through rigorous and verified safety testing in every case, and is done in a responsible manner.”

In Germany, biohacking is now illegal, and a person conducting experiments outside a licensed laboratory can face a fine of €50,000 or three years in prison. The World Anti-Doping Agency now bans all forms of gene editing in athletes. However, biohacking is not yet regulated in the United States. And Zayner doesn't think he should at all; he compares concerns about people learning how to use synthetic biology to concerns about learning how to use computers in the early 1980s. (He cites a 1981 interview in which Ted Koppel asked Steve Jobs whether there was a danger of people being controlled by computers.) Zayner hopes to continue helping as many people as possible become more "DNA literate."

“I want to live in a world where people genetically modify themselves. I want to live in a world where all these cool things we see on sci-fi TV shows are real. Maybe I'm crazy and stupid... but I think it's probably really possible."

That's why he injected himself in front of a crowd at a conference. “I want people to stop arguing about whether it’s okay to use CRISPR or not, whether it’s okay to genetically modify yourself,” he says. “It's too late: I made the choice for you. The debate is over. Let's continue. Let's use genetic engineering to help people. Or give them purple skin."

When from time to time publications appear in the media about miraculous healing from a fatal disease using self-hypnosis, a special diet, bioenergy or some other unconventional method, skeptical smiles usually appear on the faces of doctors and scientists.

Even when we are talking about indisputable facts confirmed by modern research methods, traditional medicine either brushes them aside or tries to explain the patient’s unexpected recovery as an error in the initial diagnosis.

However, the American geneticist Bruce Lipton claims that with the help of true faith, solely by the power of thought, a person is indeed able to get rid of any disease. And there is no mysticism in this: Lipton’s research has shown that directed mental influence can change... the genetic code of the body.

“The placebo effect has not been canceled”

Over the years, Bruce Lipton specialized in the field of genetic engineering, successfully defended his doctoral dissertation, and became the author of a number of studies. All this time, Lipton, like many geneticists and biochemists, believed that a person is a kind of biorobot, whose life is subordinated to a program written in his genes.

Bruce Lipton

From this point of view, genes determine almost everything: features of external appearance, abilities and temperament, predisposition to certain diseases and, ultimately, life expectancy. No one can change their personal genetic code, which means we can only come to terms with what is predetermined by nature.

The turning point in Dr. Lipton's views was his experiments in the late 1980s to study the behavior of the cell membrane. Until then, science believed that it was the genes located in the cell nucleus that determined what should be passed through this membrane and what should not. However, Lipton's experiments showed that external influences on a cell can affect the behavior of genes and even lead to changes in their structure.

All that remained was to understand whether such changes could be made with the help of mental processes, or, more simply, with the power of thought.

“I didn’t really come up with anything new,” says Dr. Lipton. - For centuries, doctors have known about the placebo effect - when a patient is offered a neutral substance, claiming that it is a medicine. As a result, the substance actually has a healing effect. But, oddly enough, there has still been no scientific explanation for this phenomenon.

My discovery allowed me to give the following explanation: with the help of faith in the healing power of the medicine, a person changes the processes taking place in his body, including at the molecular level. He can “turn off” some genes, force others to “turn on” and even change his genetic code.

Following this, I thought about various cases of miraculous healing. Doctors always dismissed them. But in fact, even if we had only one such case, it should have forced doctors to think about its nature.

We are all in a hurry for miracles...

Academic science took these views of Bruce Lipton with hostility. However, he continued his research, during which he consistently proved that without any drugs it is quite possible to influence the genetic system of the body.

Including, by the way, with the help of a specially selected diet. So, for one of his experiments, Lipton bred a breed of yellow mice with congenital genetic defects, dooming their offspring to excess weight and short life. Then, with the help of a special diet, he ensured that these mice began to produce offspring that were not similar to their parents - of normal color, thin and living as long as the rest of their relatives.

All this, you see, smacks of Lysenkoism, and therefore the negative attitude of academic scientists towards Lipton’s ideas was not difficult to predict. Nevertheless, he continued his experiments and proved that a similar effect on genes can be achieved with the help of, say, the influence of a strong psychic or through certain physical exercises. The scientific field that studies the influence of external influences on the genetic code is called “epigenetics”.

And yet, Lipton considers the main influence that can change the state of our health to be the power of thought, what happens not around us, but inside us.

It has long been known that two people can have the same genetic predisposition to cancer, says Lipton. - But in one the disease manifested itself, and in the other it did not. Why? Yes, because they lived differently: one experienced stress more often than the other; they had different self-esteem and sense of self, different trains of thought. Today I can affirm that we are capable of controlling our biological nature; we can influence our genes with the help of thoughts, beliefs and aspirations.

The great difference between man and other creatures on Earth lies precisely in the fact that he can change his body, heal himself from fatal diseases, and even get rid of hereditary diseases, giving mental instructions to the body for this. We do not have to be victims of our genetic code and life circumstances.

Believe that you can be healed, and you will be cured of any disease. At first glance, everything is extremely simple. But only at first glance...

When consciousness is not enough...

If everything were so simple, then most people would easily solve any health problems by reciting simple mantras like “I can heal from this illness”, “I believe that my body is able to heal itself”...

But none of this happens, and, as Lipton explains, it cannot happen if mental attitudes penetrate only into the area of ​​consciousness, which determines only 5% of our mental activity, without affecting the remaining 95% - the subconscious. Simply put, only a few of those who believe in the possibility of self-healing with the power of their brain actually really believe in it - and therefore achieve success. Most people at the subconscious level deny this possibility.

Even more precisely: their very subconscious, which, strictly speaking, controls all processes in our body on an automatic level, rejects this possibility. At the same time, it (again at the level of automatism) is usually guided by the principle that the likelihood that something positive will happen to us is much less than the further course of events in the worst case scenario.

According to Lipton, it is in this way that our subconscious begins to tune in during early childhood, from birth to six years, when the most insignificant events, words intentionally or accidentally spoken by adults, punishments, traumas form the “experience of the subconscious” and, ultimately, a person’s personality. Moreover, the very nature of our psyche is designed in such a way that everything bad that happens to us is deposited in the subconscious much more easily than the memory of pleasant and joyful events.

As a result, the “subconscious experience” of the vast majority of people consists of 70% “negative” and only 30% of “positive”. Thus, to truly achieve self-healing, it is necessary to at least reverse this ratio. Only in this way can we break the barrier set by the subconscious mind against the intrusion of the power of our thoughts into cellular processes and the genetic code.

According to Lipton, the work of many psychics is precisely to break this barrier. But he suggests that a similar effect can be achieved through hypnosis and other methods. However, most of these methods are still waiting to be discovered. Or just widespread recognition.

After Lipton’s ideological revolution about a quarter of a century ago, the scientist continued his research in the field of genetics, but at the same time became one of the active organizers of various international forums with the goal of building bridges between traditional and alternative medicine.

At the congresses and seminars he organizes, famous psychologists, doctors, biophysicists and biochemists sit next to all sorts of folk healers, psychics and even those who call themselves magicians or sorcerers. At the same time, the latter usually demonstrate their capabilities to the audience, and scientists brainstorm to try to explain them scientifically.

And at the same time, they are thinking through future experiments that would help identify and explain the mechanism of the hidden reserves of our body.

It is in this symbiosis of esotericism and modern methods of treatment with the main reliance on the capabilities of the psyche of the patient himself, or, if you like, magic and science, that Bruce Lipton sees as the main path for the further development of medicine. Whether he is right or wrong, time will tell.

Yan SMELYANSKY

10.04.2015 13.10.2015

There are from 50 to 100 trillion cells in the human body, each containing 23 pairs of chromosomes.

The sentence: “You can’t crush genes with your finger” has been read and heard by many. The underlying meaning of the phrase is that whatever genes a person inherited from his parents, he will walk with them all his life.

Western scientists have found that 10% of DNA in the human body takes part in the construction of proteins, and biologists consider 90% “junk” DNA on the grounds that they do not know or understand their purpose.

Russian scientist - biophysicist, biologist P. Garyaev, together with his colleagues, established and proved through experiments that the “junk” DNA of the human body can change under the influence of sounds of a certain frequency. That is, Russian scientists have proven that miraculous healings of people from fatal diseases (stage 4 cancer, AIDS, kidney, liver, heart diseases) with the help of spells are not quackery or inventions of traditional healers, but a fact that has a scientific explanation.

Now we can explain the impact on the human body of such activities/actions as affirmation, passionate prayer, hypnosis, which can change a person’s behavior for the better.

Each person is independently capable of changing his own DNA for the better with the help of thought, language, words and lifestyle.

Information on how to get rid of “bad” heredity yourself

The fact that thought is material will not be disputed by the greatest scientist - a conservative. Only the vast majority of people misunderstand the phrase “thought is material.” Everyone believes that it is enough to want something, and it should immediately come true. By analogy: a person puts all the necessary radio components near him, writes the word “radio” and waits for the music to play. In order for a set of radio components to become a radio receiver, a person needs to assemble them correctly. The phrase “to assemble correctly” is decisive, because when a person needs to get from Bologoe to Moscow, and he goes to St. Petersburg, then no matter how intensely he “stomps” until he turns around, he will not get to Moscow.

In order to change “bad” heredity, a person must do several mandatory things:

1. Passionately desire to change your genes;

2. Outline the right plan with which you can change your genes;

3. Strictly adhere to the chosen correct plan;

To yearn for

People involved in esotericism know that passionate desire creates a need, that is, a person needs what he passionately desires. Mechanisms are launched in the Universe with the help of which a person can change his genes. More precisely, these mechanisms have existed since the creation of the Universe, but with his passionate desire a person presses the “button” necessary for HIMSELF.

Map out the right plan

Let's look at the “correct plan” using the example of a person prone to alcoholism because his father “awarded” him with such genes.

Such a person gets drunk faster than people who have normal genes, and his internal organs can sooner begin to be irreversibly modified by alcohol intake (liver cirrhosis, stroke, heart/kidney disease). It is not enough for such a person to simply “stop drinking”; his genes will not change as a result of such an act; the “sword of Damocles” will always hang over him; he will go on a drinking binge.

There must be a mental attitude that genes are changing - here and now. And changes will begin to occur because the biochemical composition of a person will change. Someone will ask: “How and why?” After all, no one questions the fact that an absolutely sober person (did not drink alcohol) under the influence of a hypnotist behaves like a drunk. Think about it, the words of one person produced changes in another person’s biochemical composition and, as a result, his behavior changed.

Proper nutrition, drinking high-quality drinking water (you need to make melted water), the correct daily routine (sleep from 19:00 to 24:00 is the most effective) and after a year a glass of alcohol will no longer have the same effect on a person as it did before realizing that you need what - then change in yourself.

Strictly adhere to the chosen correct plan

There is probably nothing to comment on here. The option of “doing exercises” for a week, and then drinking alcohol “to relax with a good snack” will not work - sooner or later, irreversible processes will take place in the human body with all the ensuing consequences.

How medicine can help people change their DNA

At the genetic level, there is a predisposition not only to alcoholism, but also to cancer, tuberculosis, heart/kidney/liver diseases and many others. And all these people can be helped to change their lives for the better.

I believe that in this article there is no need to describe the mechanism of influence on human DNA: ether, torsion fields, electromagnetic oscillations, resonant oscillations - a clear knowledge of these terms will not bring a person predisposed to any disease any closer to health.

A change in human DNA in a positive direction will lead to:

· Awareness that he can change this;

· Actions in the right direction, his, the patient’s, actions, and not the doctor’s, mom/dad/acquaintances/friends. “The one who walks will master the road”;

A person is 85% water, in old age up to 60%. Therefore, it is difficult to downplay the importance of high-quality drinking water for human health. Water absorbs and stores information that a person has put into it.

In the morning, after sleep, place a glass of good drinking water on the palm of your left hand, and move the palm of your right hand clockwise around the glass and confidently say everything that you want to happen in your body. Just don't doubt that this will happen. Doubts can destroy the most powerful structure; remember, as in the Bible: “According to your faith it will be done for you.”

For some reason people are too lazy to move, even for themselves. If you want to change your DNA, it will definitely happen, you just need to take actions.

The first operation to change DNA in the human body and human embryo, the most precise gene editing technologies based on CRISPR and high-profile stories of curing severe hereditary diseases. About the most important recent discoveries in genetics - in the material of "Futurist"

​The most important achievement in medical genetics is the expanding use of human genome editing technologies both to study the genetic mechanisms that control the early stages of embryo development, the pathogenesis of hereditary diseases, and to correct genetic defects. From experiments on cell lines and animals last year, we moved to clinical trials of genome editing for the treatment of hereditary diseases in humans, says Vera Izhevskaya, Doctor of Medical Sciences, Deputy Director for Scientific Work of the Medical Genetic Research Center of the Russian Academy of Sciences.

US approves gene therapy for use in humans

In August, the US Food and Drug Administration (FDA) approved CAR-T gene therapy for childhood leukemia. This method involves genetically modifying the patient's own blood cells. Doctors first collect the patient's T cells and then reprogram them in a laboratory. The cells are then placed back into the body, where they begin to actively destroy cancer cells. Just two months later, the agency approved another CAR-T therapy, this time intended to treat aggressive non-Hodgkin lymphoma in adults.

And finally, in December, approval was granted for Luxturna, a therapy aimed at modifying one specific gene directly in the patient's body. This method is used in the treatment of a rare form of inherited blindness - Leber congenital amaurosis. This condition is caused by a mutation in the RPE65 gene. An injection is given into each patient's eye that delivers the correct copy of the RPE65 gene directly into the retinal cells. However, this treatment is very expensive: analysts suspect that one procedure could cost up to $1 million. Similar procedures were carried out experimentally in the UK back in 2008. Nevertheless, the approval of the method at the state level is a significant event.

Gene therapy restored the skin of a seven-year-old boy

Skin of a child with epidermolysis bullosa

In November, Italian researchers announced that a combination of gene therapy and stem cell treatment had almost completely restored the skin of a seven-year-old boy suffering from the rare inherited disease epidermolysis bullosa. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes, which are responsible for the formation of the laminin-332 protein. In this condition, the skin and mucous membranes become covered with painful blisters and become sensitive to minor mechanical damage.

The researchers took healthy skin cells from the patient, and from them they grew skin cultures into which, using retroviruses, they introduced a healthy copy of the LAMA3 gene. The modified gene ended up in a random location, but this did not disrupt the work of other genes. The transgenic skin was then grafted onto the child's exposed dermis. Within 21 months, about 80% of his skin had recovered.

According to the study authors, Hassan's prognosis was very poor: he had lost almost all of his epidermis, was emaciated, and was in constant need of morphine. For a year before the experiment began, he was fed through a tube, and keeping him alive took enormous effort. They tried to transplant his father's skin and use artificial analogues, but they did not take root. Now the boy is 9 years old, he goes to school and feels well. This achievement demonstrates the possibility of treating genetic diseases that were considered incurable.

“Gene scissors” have become much more accurate

CRISPR technology is often called "gene scissors" for its ability to cut and paste needed pieces of DNA more easily than ever before. However, one of the main obstacles to its use for the treatment of human diseases are the so-called off-target effects - unintended changes in the genome after editing the target region. And yet this technology is being steadily improved. In 2017, scientists announced that CRISPR could now be used to make changes to RNA—this requires the Cas13 protein.

In addition, this year it became widely known about technology that can make targeted changes to DNA and RNA instead of cutting out and replacing entire fragments. The human genome contains six billion chemical bases - A (adenine), C (cytosine), G (guanine) and T (thymine). These letters are connected in pairs (A with T, and C with G), forming a double helix of DNA. Standard genome editing techniques, including CRISPR-Cas9, create double-strand breaks in DNA. However, this is too crude a solution to the problem, especially in cases where it is necessary to correct a point mutation. The technology of basic editing (ABE) offers a more efficient and cleaner option: it allows you to point-by-point replace one letter in a pair with another. The Cas protein, which cuts DNA strands in CRISPR technology, now simply attaches to the desired place in the chain and brings with it another protein that changes one genetic letter to another. ABE does not replace CRISPR technology, but is an alternative option if more subtle changes to the genome are required.

DNA edited directly in the human body

Brian Mado with his fiancee before surgery

In November, American scientists first tested DNA directly in a patient's body. Typically, treatments that affect a patient's genetics rely on manipulations outside the human body. But this time, an IV was used to deliver billions of copies of the corrective gene into the patient's body, along with a genetic tool that cuts the DNA in the right place to make room for the new gene.

Brian Mado, 44, suffers from Hunter syndrome, a metabolic disease in which carbohydrates accumulate in the body due to a lack of certain enzymes. Before this experiment, the man had already undergone 26 operations. The results of the procedure can be judged in a few months: if successful, his body will be able to produce the necessary enzyme on its own, and he will not have to undergo weekly therapy.

“After this, the biotechnology company Sangamo Therapeutics began recruiting participants in clinical trials of this method with hemophilia B, Hurler syndrome and Hunter syndrome. In the case of successful clinical trials, there is hope for the emergence of effective methods for treating hereditary diseases that were previously considered incurable,” comments Vera Izhevskaya.

The first operations to change the DNA of a human embryo

In September, the world's first genome editing operation on a human embryo was performed in China. Researchers have used the DNA base-editing technology mentioned above to treat beta thalassemia, a disease in which hemoglobin synthesis is impaired. The operation was carried out on embryos synthesized in the laboratory. A little later, Swedish scientists spoke about experiments on editing the genome of an embryo.

“One of the most impressive works on changing the human genome is a study by an international group of scientists in the USA, led by Shukhrat Mitalipov, who reported the successful correction of the MYBPC3 gene mutation, leading to hypertrophic cardiomyopathy, when editing the gene of human embryos,” comments Vera Izhevskaya.

Previously, experiments were carried out on mouse embryos. This study sheds light on a potential solution to the problem of mosaicism - the presence of genetically different cells in tissues. If an embryo has two different copies of the same gene, and subsequently some cells receive a normal version, and some receive a mutant version, which leads to various diseases. Experiments have shown that if a CRISPR/Cas editor is introduced almost simultaneously with fertilization, this can be avoided.

Genetic testing

One of the brightest news stories of the past year was the story of a biohacker Sergei Fage , who claimed to have his condition under control based on the results of genetic testing. However, this technique is very controversial. The study of the human genome to determine his origin, propensity for a particular sport, etc., refers to the so-called recreational genetics. They do not require a special medical license; as a rule, they are performed by commercial companies. However, genetic tests are often offered on the market to confirm a hereditary disease in a patient, identify mutations that can cause a hereditary disease in the person being examined or his children, and test predisposition to various diseases.

“Here it should be borne in mind that modern genome analysis technologies are effective in the first two cases regarding mutations that cause rare hereditary diseases. As for testing predisposition to common diseases (cardiovascular, diabetes, etc.), they have low prognostic value and their results are often accompanied by general recommendations about the need to lead a healthy lifestyle. In any case, genetic testing for medical purposes should be prescribed by a doctor, before which the patient should be explained by a geneticist what he can get as a result of testing, a conclusion. also given by a geneticist. From this it follows that the institution that performs such tests must have a medical license in the specialties of genetics and laboratory genetics and an appropriate staff of qualified specialists,” explains Vera Izhevskaya.

What a patient should do with this expensive information is not always clear.