There are 100 trillion cells in the human body, and in each of them there is a tiny genetic cluster that performs the most complicated work. Frank Ryan, a physician and evolutionary biologist, describes the complex mechanisms of the genome, which works as a complete system, and not just as a set of genes encoding proteins, the first-peers of life. In addition to the genome, there are subtle “switches” that regulate and control portions of our DNA; interaction of retroviruses and bacteria also plays a role.
This revolutionary book tells about the new era before us, when we can not only cure, but also eradicate many diseases.
Excerpt from a book. The first sketches of the human genome
On Saturday, February 12, 2001, two rival organizations - the Celera Genomics and the Human Genome Project (with the support of many government and charitable organizations in the United States, Great Britain, Germany, Japan and France) - simultaneously announced the completion of the first stage of the complete decoding of the human genome. This caused a wave of enthusiasm in the world media. US President Bill Clinton began the laudatory ode that British Prime Minister Tony Blair picked up, and after them national leaders and leading scientists from each country announced the beginning of a new era of knowledge and research. Roger Highfield, scientific editor of The Daily Telegraph, put it bluntly: "Rival scientists open the book of life." According to Andy Coglan and Michael Le Page, correspondents of New Scientist, the genome will soon be taught in schools as a periodic table. There was no doubt that this discovery marks the beginning of a new stage in genetics and is a huge step forward and a logical continuation of discoveries in the field of DNA. And just like with DNA, conflicts again began between the two rival groups.
Director of the Human Genome Project Watson made the project international, thus enlisting the support, gratitude and dedication of many scientists around the world. In addition, he allocated a small part of the funds to convey the sociological, religious and ethical ideas relating to the project to intellectuals and politicians. In academic circles, many have seen in Celera Genomics arrogant upstarts, led by the enterprising scholar John Craig Venter. But he should be commended - Venter, thanks to his insight and charm, was able to succeed on a long list of amazing scientific breakthroughs, including new areas of genetic research. Like Watson, Creek and Wilkins, Venter noted that Schrödinger's book had inspired him in his time.
Venter developed as a scientist, working at the US National Institutes of Health next to the Marshall Nirenberg Cabinet, who contributed to the discovery of the histone code. In 1992, Venter, who found it difficult to endure the slow pace of progress in his environment, organized his own commercial laboratory - the Institute for Genetic Research (The Institute for Genomic Research - TIGR). Now he could combine automated sequencing with the new approach invented by his research group, the “machine gun belt,” in which the long genetic sequences found in living organisms could be broken down into smaller pieces. Sharing the genome into smaller and smaller parts, scientists found repetitive fragments that could later be used to recreate the entire nucleotide sequence of a microbe or, say, a human chromosome.
"Machine-gun technology" could speed up work on the project, but Venter's rivals denounced the method as potentially inaccurate. Nevertheless, in 1995, Venter published an article about his first victory: for the first time, the genome of a living organism — the bacteria Haemophilus influenza, which causes respiratory diseases and other infections — was completely deciphered. After that, the genome of the ulcer-causing bacterium, Helicobacter pylori, was deciphered, and in March 2000, the insect genome — known from the experiments of Thomas Hunt Morgan fruit fly — was finally deciphered. And skeptical scientific circles were, so to speak, put in place.
In 1998, Venter cooperated with Perkin Elmer, and the Perkin Elmer Corporation and the Institute of Genetic Research merged, giving rise to a new company, Celera Genomics. The word celera in Latin means “hurry” and emphasizes the importance of research speed. Venter made it clear that the company's goal is not biotechnology by itself, but the provision of information. According to James Sriva, who described this amazing time, the market product of Celera Genetics is a huge genetic base based on the human genomic sequence. Thus, for the new Venter company, the very reason for existence was the rivalry with the government-sponsored organization Human Genome Project.
In 1992, James Watson seriously disagreed with Bernardina Healey, who at that time was responsible for the Human Genome Project. Healey agreed with Congress directive that the opening of the organization should be supported by patents. Watson fervently objected and ridiculed Healy until she dismissed him, "tired of offensive remarks." That same year, Watson replaced the more diplomatic Francis Collins. The organization of the Wellcome Trust in the UK began with the establishment of the Sanger Center, a huge genome decoding laboratory located near Cambridge, which, together with the National Center for Health Research, worked on the Human Genome Project.
The ambitious company Celera launched 200 most powerful code decoding machines, combining the speed of industrial production with Venter's “machine-gun belt method”, dividing the 46 chromosomes consisting of 6.4 billion proteins into small pieces. These pieces were decoded in the banks of the sequensers, after which they could be used to assemble a whole genome. The approach of Celera, as Venter saw it, was to reduce the time to complete the project from ten years, declared by his rivals, to seven. At the same time, Collins, with the support of many scientists working in the Human Genome Project, challenged the view that such an approach could lead to unacceptable inaccuracies. Now scientists are worried about something else: that Venter’s commercial mind, despite his assurances, will lead to limited access to genome data and, thus, will limit subsequent research. Some scientists even feared that Celera might try to copyright itself to the human genome.
Opponents were still exchanging stinging bites in the media when in 2001 both companies announced discoveries: Celera published the results in the leading American journal Science, and the Genome Project took advantage of its British counterpart, Nature. As a result, we have two options for decoding the genome. Celera made it clear that they would only give access to data to scientists, but this would not apply to commercial use. In the end, they spent hundreds of millions of dollars on these studies and now, being a commercial company, they must return the money spent and get some profit from the project. But another organization that was in public funding, said that all their discoveries are fully accessible to anyone.
Perhaps some readers will be indignant that commercial interests invade the sanctuary of the human genome. However, in reality, a confrontation between commercial interests and the interests of the public in medicine and biology often happens. It is sometimes difficult to draw a clear line between these approaches, but in practice research into the most important areas, such as vaccinations, antibiotics, cancer drugs, always involves a complex balance between the two opposites.
Here, a scientific breakthrough went in two ways at the same time, and both sides deserve a storm of applause. Thanks to two publications in the journals Nature and Science (February 15 and 16, respectively), the world of science and humanity as a whole learned about the incredibly complex molecular structures that underlie our genes. Decoding the genome promised epochal changes in the future of biology and medicine - in general, in the future of mankind - and led to a dizzying and very unexpected discoveries. Newspapers and magazines wrote: deciphering the genome map, we know the very essence of life. But in reality, this card was a solid terra incognita.
When we talk about a breakthrough in scientific discoveries, we often exaggerate. However, a breakthrough after a breakthrough really happened here, which brought three huge surprises to the scientific world, each of which was itself a new challenge, a new mystery. The picture will become clearer if we look at the diagram.
I must clarify that this diagram is a kind of metaphor, an assumption. It shows the percentage of different genetic elements in the genome, but does not show where all this is located in our 46 chromosomes. At this stage, most geneticists were mainly interested in the genes coding for proteins, and it was in this area that the first mystery we faced was located.
Biochemists roughly estimated the amount of proteins in the human body at 100,000. We assumed that there would be as many genes that encode these proteins. Genetics wanted to know how many genes actually exist and where exactly they are located on chromosomes. What a shock it turned out that these genes accounted for less than 2% of the entire genome, maybe even 1.5! It looked as if they simply could not encode all the 100 thousand proteins that make up the human body.
So where did it go wrong?
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