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MOST IMPORTANT SCIENTIFIC DISCOVERIES
The human genome. History and essence of scientific discovery
Directory / The most important scientific discoveries A sensational scientific achievement - the decoding of the human genome - is compared in importance with the splitting of an atom or the disclosure of the structure of a DNA molecule. One thing is clear: this discovery raised science to a fundamentally new level of knowledge. Perhaps for the first time in modern science, an unusual situation has developed. On the one hand, individual researchers who found themselves powerful sponsors, on the other hand, institutions and universities funded by the governments of several countries, joined the work on an extremely expensive and important project. Initially, in 1988, funds for the study of the human genome were allocated by the US Department of Energy. Professor Charles Cantor became one of the leaders of the Human Genome Program. In 1990 James Watson as a result of lobbying by the US Congress, he soon achieved the allocation of hundreds of millions of dollars at once for the study of the human genome. That was a significant addition to the budget of the Ministry of Health. From there, the money was directed to the management of the network of institutions united under the general name - the National Institutes of Health (MH). A new institute appeared as part of MN - the National Institute for Human Genome Research, of which Francis Collins became director. In May 1992, MN lead contributor Craig Venter submitted his resignation. He announced the creation of a new, private research institution, the Institute for Genomic Research, TIGR for short. The scientist was able to surprisingly quickly develop and grow his offspring. Already the initial capital of the institute amounted to seventy million dollars donated by sponsors. The TIGER has been declared a non-profit private institution that does not use its results for enrichment or trade. Almost at the same time, they formed the Human Genome Sciences company, which was supposed to promote the data obtained by TIGR employees to the market. In June 1997, Venter began a new makeover. He took the TIGER out of the connection with Nauka and in 1998 organized his own commercial company in Rockville (Maryland), which he called Silera Gynomics. Venter became its president, remaining the chief scientific director of TIGR. The latter was led by his wife Claire Fraser. As V.N. Soifer, "Venter turned out to be an exceptionally skilled leader. He agreed with one of the large companies m the production of scientific equipment that it would provide TYP with 18-20 automated sequencers-robots for rent, which in the first year of operation would increase the size of the sequenced sequences ds 60 million bases (one-fifth of the entire human genome; the same was important for the company - it is difficult to imagine a better advertisement for its products.) Later, Venter entered into a similar contract to supply the institute with huge systems of advanced robots for sequencing long pieces of DNA. Venter had at his disposal a huge fleet of computers, which is considered the second most powerful in the world. Three hundred supercomputers, worth about $80 million, process huge amounts of data around the clock. As a result, work on the Human Genotype Project has gained unprecedented speed. Initially, the full version of genotype I was promised by 2010, then it was supposed to be completed in 2003. The result was already achieved in 2001! By opening an independent center - the Institute for the Study of the Genotype, Venter promised to be the first to decipher the human genotype. By 2001, it was possible to obtain a sequence of two billion characters of the genotype. Moreover, it took four years to establish the sequence of the first billion, and less than four months for the second billion. Acceleration is the result of high technology, such as robots. Venter's team uses a method called machine gun sequencing. In an explosive way, the entire genotype is divided into seventy million fragments. Next, the sequence is built by the machine, and the order of the genotype is processed by a supercomputer controlled by a processor with a capacity of 1,3 trillion operations per second. Venter proved the effectiveness of machine gun sequencing when Silera Gynomics reproduced the genotype sequence of a microbe responsible for serious infections such as meningitis, and also completed the genotyping of the fruit fly (120 million characters). In 2001, an international consortium, which included, in addition to the leading participant in this project, the biotechnological company Silera Gynomics, 16 organizations from the UK, USA, France, Germany, Japan and China, published the results of a colossal work. Scientists have determined that the genetic program of the DNA molecule is 3,2 billion endlessly repeating four pairs of nitrogenous bases of adenine, thymine, cytosine and guanine. The biggest surprise was the fact that the number of genes in the human hereditary program turned out to be not 80-100 thousand, as expected, but only 30-40 thousand. Compared to the number of genes in an earthworm (18) or a fruit fly (000), the difference is not that great! At the same time, similar genes were found in different living organisms, which only confirms the theory of molecular evonony. "If someone thought that the main difference between biological species is determined precisely by the number of genes, then he was most likely mistaken," sums up Professor Eric Lander, head of research on the human genome at the Massachusetts Institute of Technology in the USA. And Venter, not without sarcasm, adds: "Only a few hundred genes that are in the human genome are not in the mouse genome." Thus, scientists could not confirm the initial ideas that a person is a complex structure from a biological point of view. “The work of human genes, they say, turned out to be much more complicated than they expected,” Elena Slepchuk writes in the journal Echo of the Planet. “We have not one, but several or even a group of genes. However, geneticists have guessed this before. Perhaps, in this way, genes insure each other, and at the same time acquire a wider field of activity. The work of genes can be compared with the actions of puppeteers leading a whole spectacle, masterfully directing obedient puppets and introducing In the course of action, more and more new characters.Let's imagine that instead of strings, there are gene commands for the production of certain peptides, from which the body of a living organism is subsequently built.According to molecular biologists, another feature of human genes is that nature has given us a greater number of so called controller genes that monitor the work of their “brothers.” Indeed, why endlessly increase the staff if the goal can be achieved through intelligent management? This is where the role model for our managers is. By the way, scientists at Cambridge University have already planned a special study, hoping to figure out how such a complex structure - a person - is quietly controlled by such a small number of genes. But what we are fundamentally different from the whole living world is the amazing variety of our proteins. How many, no one knows. Geneticists believe that individual protein components can mix with each other, forming various combinations, just as mixing seven primary colors creates a myriad of different colors. Biology is not done at the level of genes, but at the level of proteins, they admit. Another important conclusion follows from this: not everything in our life is determined by genes, a lot also depends on the environment. Another surprise that baffled biological science was the presence of so-called "silent" DNA. And earlier it was known that along the DNA chain there are sections that do not give out any information for the production of proteins. Genetics called them "genetic garbage." And it turned out that such sites occupy 95 percent of all DNA. Some biologists hypothesize that it is in them that evolutionary information is hidden. Others believe that these regions have an important role in gene control. Venter believes that deciphering the human genome will help to better understand the true causes of many diseases. This discovery will allow in the near future to eliminate hereditary ailments, as well as to create new drugs. New treatments will be able to "repair" or replace "bad genes". With such an individual approach to each person, it will be possible to prolong human life. And here is the opinion of Professor David Altshuler from the Whitehead Institute for Biomedical Research: “There are no two identical diseases and two identical patients. About half of these differences can be explained precisely by the features of the genetic code. And if we understand what kind of information it contains, we can compare our genes patients with the genes of an ideal, "pure" Homo sapiens and look for ways to treat, which will significantly increase the efficiency of the doctor's work." “More skeptical in this respect is John Salston from Cambridge,” Boris Zaitsev writes in the same journal, “who believes that relatively few diseases are associated with certain genes. The vast majority of them, including such “main killers” as heart diseases, arise with the participation of many genes and proteins, on the one hand, and under the influence of the environment, on the other.It follows that the prospect of creating a new generation of drugs that can treat diseases at the genetic level is postponed, the scientist believes. "biological purposes" in the body. It is necessary to penetrate much deeper into the foundations of life - to understand how genes interact to produce almost 483 thousand proteins. This, according to forecasts, will take much more time than deciphering the genome itself ... ...Along with the brilliant opportunities that a new achievement of scientists opens up, a genetic breakthrough can have serious legal, ethical and social consequences. A genetic test, if carried out, will show all the diseases to which a person is predisposed. Will this not affect the relationship between the patient and the doctor, if diseases cannot be avoided anyway? And if such data gets to the insurance companies, will they not use it to "wean" potential patients from financial assistance? And will people who don't have "pure" genes get jobs? Tests on embryos can lead to forced abortions in women whose fetuses are found to have "bad" genes. Harsh attempts to generally prohibit people with genetic abnormalities from having offspring cannot be ruled out. The appearance of their children immediately can put babies in the category of "genetic outcasts"". Professor of genetics David Altschuler is categorical: "We should start negotiations with governments and legislators now about passing a law that protects citizens from "gene discrimination"". Author: Samin D.K.
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