Features of the national genome
And the codes are flying
The decoding of human genomes has finally been put on stream. Now they are doing this even in Russia.
Nikita Maksimov, "Russian Newsweek"Doctors from St. Louis Hospital Barnes do not disclose the name of their recent patient.
But they give a detailed medical history. A 44-year–old American woman was unlucky - she was found to have a severe form of breast cancer. Radiotherapy and the most modern drugs did not give any effect. Metastases spread rapidly through the body, and surgeons simply did not have time to remove them. The woman could not be saved.
This case of the disease turned out to be very severe. In the very near future, doctors will find out why. Before her death, their patient signed a consent form to study her DNA. Taking samples from the patient, the scientists decoded several genomes at once. They "read" not only most of the DNA of her healthy cells, but also the genetic material of tumors.
The researchers found that a large number of mutations appeared in cancer cells. Each of them could make the disease especially dangerous. These data can be used to create new anticancer drugs. Last week, geneticists published a report on their work and decoded the patient's genome. Now scientists will deal with it closely.
Just a few years ago, they would have said about such a study: this is fantastic. Back then, even the largest scientific centers could not afford to work with several genomes at the same time. Now this barrier has been overcome. Comparative genome studies are becoming one of the most popular areas in biology. The point here is not at all a theoretical breakthrough. The development of technology has finally turned the decoding of genomes from a non-trivial task into a routine procedure. Now most serious laboratories can afford it. In December last year, Russia joined the "genomic powers". The genome of a kidney cancer patient was decoded at the Kurchatov Institute. This result can also be very useful for medicine. Unfortunately, these valuable data have been dead weight for several months.
Popular genetics
In order to understand how accessible genetic technologies have become, you do not need to be a specialist – just look at the estimates. Decoding the first human genome took thirteen years and cost about $3 billion. Now the same procedure can be easily performed in a month, and it will cost about $ 50,000. This finally allows you to put the process on stream.
A striking example of this is a recent study by geneticists from the Institute of Systems Biology in Seattle. A month ago, they announced the decoding of the genomes of an entire family of four people. The couple did not have any physical abnormalities, but both of their children were born with Miller syndrome. This is a severe hereditary disease – patients have deformed face and limbs. Comparing the genomes of children and parents, scientists have compiled a list of four genes in which mutations can cause such a disease. Now this data can be used in various genetic tests.
The authors of the most recent work – employees of the American Barnes Hospital – also worked with several genomes at the same time. The source of the hereditary material was an oncological patient, from whom scientists took samples of several tissues at once. Now they have almost completely decoded the genomes of healthy and cancer cells of the patient. They differ from each other by forty-eight mutations in a variety of genes. So far, researchers do not understand how each of these changes could affect the patient's health. But it's only a matter of time – scientists from laboratories around the world have already taken suspicious genes on a pencil.
Genetic studies of tumors are already able to bring practical benefits. In 2007, Japanese molecular biologist Hiroyuki Mano discovered that the cells of patients with a form of lung cancer are distinguished by one characteristic genetic anomaly. Two sections of their DNA merge into one large gene. As a result, a special protein begins to accumulate in cancer cells, with the formation of which tumor growth is associated. Pharmacists have studied this work and are already creating drugs that selectively act on this protein.
Features of the national genomeDecoding the genomes of cancer patients will make the search for such targets much more effective.
Recently, such studies have been engaged in in Russia. In December, the Kurchatov Institute announced the decoding of the genome of a Russian – he became a sixty-year-old man with kidney cancer. Now his DNA sequence is stored in the institute's database. "We have become a full–fledged member of the genomic community," says Egor Prokhorchuk, one of the authors of the work. He claims that the results of the project will definitely pay off in the future: "Our data will help to understand which genes are responsible for predisposition to this form of the disease."
For this research, the institute had to equip a separate laboratory. For her, they bought five modern sequencers – devices that allow "reading" the DNA sequence. American equipment cost $7 million. Consumables – another $200,000. Prokhorchuk does not even undertake to estimate other expenses. "In the conditions of Russia, any technical task becomes non–trivial," he complains.
In order for the staff of the center to be able to work on complex devices, they needed additional training. In the rooms occupied by the laboratory, the ventilation system had to be completely redesigned so that there was as little dust in the air as possible. In addition, the devices had to be connected to a data-processing computer. Cables were pulled to another building across the entire institute. We did it quickly. But permission for redevelopment was received for two whole months.
As a result, the state had to spend a substantial amount on the project, even by foreign standards. However, Prokhorchuk's colleagues have big claims to the way the money was allocated. "If the state decides to allocate money for a serious project, a competition should be announced," says Mikhail Gelfand, Deputy Director for Scientific Affairs at the Institute of Information Transmission Problems of the Russian Academy of Sciences, "then research teams will have the opportunity to compete with each other." The scientist is sure that the state would only benefit from such a competition: it is quite possible that other research centers would have coped with the task for less money. In 2003, Prokhorchuk himself was equally indignant. A scientist who recently returned from the University of Edinburgh wrote a letter to the prestigious scientific journal Science. In it, he criticized the financial side of Russian science – just the fact that money for research is often not allocated according to the most transparent schemes.
Now he is already being criticized for the opacity of his work. The fact is that the results obtained at the Kurchatov Institute are not so easy to get acquainted with.
A Newsweek correspondent was allowed to look at the data obtained from a computer inside the institute. Of course, the columns of the deciphered genetic code told the journalist little. But they would be very interesting to specialists. But there is no genome in international databases yet, but a specially created website russiangenome.ru it has been under development for many months.
"The generally accepted world practice is that scientists post their data for verification," says Mikhail Gelfand. "This is required, among other things, by journals in which reports on work are printed." Leading scientific journals, such as Nature, are happy to publish articles on decoding human genomes. The staff of the Kurchatov Institute posted a brief report on the work in the newly created Russian scientific journal Acta Naturae. The article appeared in the second issue of the publication, and apart from the technical description of the work, there are no details in it. "This was the position of the institute,– explains Yegor Prokhorchuk. – The idea was to publish the work in a Russian magazine."
Perhaps that is why foreign scientists do not particularly discuss the work of their Russian colleagues. Prokhorchuk is sure that this is temporary. He declined to discuss with a Newsweek correspondent the reasons why the data was never published. But he promised that it would definitely be done. Then, according to him, normal international cooperation will begin. The institute's reverent attitude to its data was explained to Newsweek by another scientist who asked not to be named. For the open publication of the genome, he says, it was necessary to obtain permission from the FSB.
"This is some kind of nonsense," Evgeny Kunin from the American National Center for Biotechnological Information is outraged. – Well, what can be secret in the genome? Only one reason for all this mystery comes to mind – the decryption was performed poorly." Kunin is one of the world's most famous specialists in the processing of biological information. If the employees of the Kurchatov Institute still publish their results, the data will immediately get into his laboratory.
Perhaps in the near future, the scientist will be able to assess the quality of the decoding of the "Russian genome". The interlocutor of Newsweek at the Kurchatov Institute reported that a few weeks ago, the FSB still gave the go-ahead for the publication of the results. However, scientists immediately faced another problem. This time, national security has nothing to do with it. According to international rules, the publication of genetic information is possible only with the written consent of a person. It remains for the researchers to draw up the necessary papers.
Portal "Eternal youth" http://vechnayamolodost.ru19.04.2010