After two decades of work by various teams of scientists, research published last Thursday in the journal Science reported that it was finally achieved, fully assemble a human genome sequencewhich would allow research into neurodegenerative diseases and cancer.
The genome of human beings is made up of some 3.1 billion DNA subunits, which become the 30,000 genes that make up the 23 groups we know as chromosomes.
With the complete discovery of genome sequences, it will be possible to carry out research and medical discoveries in diseases neurodegenerative diseases, cancer, heart disease and even aging.
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“We are expanding our opportunities to understand human disease,” said Karen Miga, an author of one of the studies.
In addition, according to the scientists, this complete image of the genome will allow for greater knowledge and understanding of evolution and biology.
It was in 2000, when two competing teams of scientists presented the first draft of the human genome at the White House through a publicly funded project spearheaded by an agency of the US National Institutes of Health. States, and the company Celera Genomics.
The sequence was incomplete due to DNA sequencing technologies of the time, since they did not allow reading certain regions of the genome, which caused a loss of information of at least eight percent, even with the updates made.
However, it was not until 2022, when a group of researchers finally achieved the first sequencing of the complete human genome, that is, the instructions to build and maintain a person.
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“Some of the genes that make us unequivocally human were actually in this ‘dark matter of the genome’ and were missing entirely. It took more than 20 years, but we finally got it,” said Evan Eichler, a researcher at the University of Washington and part of the original Human Genome Project.
After this achievement, the researchers stated that they are working on sequencing a genome with the chromosomes inherited from each parent, as well as the creation of a pan-genome that has more human diversity.
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