2023-05-11 01:33:11
The magazine ‘Nature’ published this Wednesday the first draft of the human pangenome, a collection that brings together 47 genomes (that is, the ‘instruction code’ that literally ‘makes’ each person) and shows the genetic diversity of humanity. This new tool opens the door to a better understanding of DNA diseases, as well as the origin of the species.
But what does this progress really mean and in what context is it situated? Here are some little brush strokes.
What is the difference between gene, chromosome and genome?
Genes contain information about how our bodies should function. All the genes, which are inside each cell on the chromosomes, make up the genome. In a simple comparison: the genes would be the pages; the chromosomes, the books; and the genome would correspond to a library.
What is a pangenome?
Each living being has its own genome –with few exceptions–, which is unique. Logically, if two individuals are of the same species, their genetic material will be more similar than if they are from distant families. But, still, it will be different. The pangenome brings together several genomes of the same species –in this case, humans– in order to elucidate the small differences between them.
Are we so different from each other humans?
All humans are 99.9% equal to each other. However, if we have 3,000 million pairs of letters in our genome, this represents between 3 and 6 million letters that, at a minimum, are different between any pair of human beings. And among those differences will be found the one responsible for the congenital disease that we suffer, for example. Or that a drug can cure us but for another person it is not so useful. The pangenome can reveal those differences.
Does the pangenome cover all possible cases?
No. Precisely because the vast majority of people are genetically unique – there are identical twins who share a genome – it is impossible to cover all of humanity with this first draft. To do this, it should contain the genome of each and every one of us, something almost impossible (at least today).
What apps does it have?
The pangenome that is being developed will make it possible to investigate the genetic differences that cause, for example, DNA diseases. It will improve genetic testing and allow a better understanding of the contribution of all genetic variations to health and disease. It will also make it possible to observe the differences in the success of the treatments depending on the ethnic group or, in the shorter term, to detect possible rejections in the transplants. In addition, they will be very useful to study the origins of the human being.
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