What does the human genome do

Human genome Researchers map human blueprints


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20 years ago geneticists deciphered the human genome. A scientific sensation, comparable to the moon landing. With the deciphering of the human blueprint, the researchers initially wanted to understand the origins of (hereditary) diseases. Because the genome contains all heritable information in life.

Status: 02/08/2021 1:33 p.m.

Science, ripe for the cinema: the mapping of human DNA was initially a race for researchers for fame and honor. At the start: the US government-funded Human Genome Project (HPG) and the private company Celera Genomics founded by geneticist Craig Venter (which was taken over by Quest Diagnostics Products in 2011).

From research association to international genome project

The founding of the Human Genome Organization (HUGO) in 1988 set the ball rolling - an association of scientists and research institutions that was supposed to coordinate the identification of all genes. The actual Human Genome Project began its work in September 1990 as a public, mainly American, large-scale research project. It quickly became a loose network of working groups from more than 30 countries. Around 60 percent were taken over by various centers in the USA. British scientists accounted for a quarter of the task. The remaining sequences were mainly genome researchers from France, Japan, China and Germany. The plan was to get the job done by 2005. The total cost: around $ 3 billion.

Decoding the human genome - a mammoth task

The human genome consists of only four different basic building blocks, the nucleobases: cytosine (C), guanine (G), adenine (A) and thymine (T). But the DNA thread of the 23 human chromosomes comprises around 3.2 billion gene letters. They form the software of life, so to speak. When the "working version" of the human genome was announced in June 2000 and published in February 2001, it became clear that the "text" of human DNA was unimaginably long. Written out it would fill about 3,000 books, each book 1,000 pages of 1,000 letters thick.

Race to decipher genes

In Craig Venter's laboratory, huge computing capacities analyzed fragmented DNA snippets in order to crack the human genetic code.

The joint efforts of the scientists did not last long, however. The US scientist Craig Venter, who initially cooperated with the research project, announced in 1998 that he would single-handedly decode the genome with his company Celera Genomics. He used a much faster, but in the opinion of many scientists inaccurate and incomplete technique, the so-called "shotgun" method. In doing so, the scientist relied on the computing power of his computer: he did not use enzymes but ultrasound to break the DNA down into snippets, which were then analyzed and reassembled using immense computing power.

A race began: Who will sequence how many gene segments and how quickly? Celera had the advantage of having access to the data of the competition. Conversely, Craig Venter did not share his findings. In the end, however, both sides partially worked together again. In June 2000, Celera Genomics and the Human Genome Project jointly presented a raw version of the genome.

Sequencing the genes with a happy ending

The long way to the language of life

The human genome has been considered completely deciphered since 2003. Today, fast computers can read the genome of every human being in a few hours. If one compares the differences between individual human genomes, the key to (hereditary) diseases can be understood. For some hereditary conditions, researchers have now identified the genes responsible, which can lead to targeted therapies. Genetic tests can now also reveal a predisposition to Alzheimer's and diabetes.

US President Bill Clinton (center) in 2000 with HGP Director Francis Collins (right) and Celera Genomics President Craig Venter (left).

Due to its genome, the complexity of the human organism cannot be explained to this day. Too many factors, such as gene regulation and the exchange of information between genes, play a role here. The text of the human genome is known and that gave many hope when it was deciphered. For example, when US President Bill Clinton announced the scientific breakthrough in 2000, “Now we are learning the language with which God created life.” But it will be a long time before we really understand this language.