Discovery of the "key" to understanding human evolution and also the study of "unstable" genetic sequences that cause rare diseases, by Antonio Giordano, M.D., Ph.D., Founder of Sbarro Health Research Organization (SHRO).
Frederick Sanger is the signature bearer of the first genome sequencing which was reported in 'Nature' journal in February 1977. Sequencing means determining the exact order of the monomers that form a biomolecule. This represents the first step in understanding the function of a gene and when combined with other molecular biology investigations, helps researchers identify regulatory and coding regions.
Sequence analysis is useful for identifying and establishing mutations; for example, phylogenetic correlations between different species. The first biomolecule to be sequenced was a protein, namely insulin. Sequencing a protein means reconstructing the precise order of the amino acids as they are arranged in the primary structure. The discovery of sequencing earned Sanger the Nobel Prize in Chemistry in 1958. Later Sanger directed his interest in DNA sequencing. It took years of hard work and advanced technologies, but finally, human DNA has no more secrets, paving the way for personalized medicine and the diagnosis of hitherto unknown diseases.
The great book of life has therefore been translated, but the sequential DNA is only the beginning of the journey: it will have to be read and interpreted. Many diseases are due to "repeating" DNA sequences, with interruptions that in the past we could not "see". The secret of human diversity lies precisely in the "repetitions". To get to understand the mechanism it took sequencing methods and computation analysis, but now we have the "key" to understanding human evolution and also the study of "unstable" genetic sequences that cause rare diseases, whose origin and relative care up to this point was destined to remain obscure.
The implications and consequences of such a discovery are endless; it is certainly necessary to foresee the ethical limits and to envisage only the benefits for the human race. Completing the map of the human genome opens up to the reading of secrets that were worth waiting for because at present we have the tools, potential and technological knowledge to make the most of them.
The outstanding results were published in 6 articles in a special issue of the 'Science' journal. Only now is it possible to read human DNA from start to finish without interruption, thanks to the work done by the international consortium called Telomere-to-telomere (T2T). The new chapters of DNA correspond to 200 million letters which are equivalent to the information contained in a chromosome. It's like completing a difficult "puzzle," as the authors of the research, including biomedical engineer Justin Zook, of the National Institute of Standards and Technology, said.
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