DNA: what changes now that the genome map is complete

Lhe map of the human genome is finally complete, the last 8 percent was sequenced and now there are no more gaps in the 3 billion “letters” of the DNA. It is a great scientific achievement that will strengthen genetic studies on diseases, and will forever mark the history of medicine.

“Before it was as if we had an encyclopedia with missing pages,” he begins Giuseppe Novelli, geneticist at the Tor Vergata Polyclinic in Rome. «Finally, with the complete DNA sequence it will be possible to arrive at the diagnosis of some diseases. We have in fact seen that in various pathologies, especially diseases affecting the nervous and muscular systemsthere is an abnormal repetition of DNA sequences, and an unusual repetition indicates illness.

Dna and disease treatment

22such as mental retardation due to Martin Bell syndrome, so now we can go and see if in the patient there are interruptions in the repeated DNA sequences, which in the past we could not see, and the finding is an important diagnostic and clinical information ». “However, it is not enough to sequence the DNA because you have to know how to read and interpret it well” adds the geneticist.

Where to do a genetic test

“Therefore for example, those who want to undergo a genetic test must go to the right laboratories, to experienced specialists and an interview before the test is always recommended. When it comes to genetics, going to analyze the pathologies that family members (parents, uncles, brothers and grandparents) have had is in fact fundamental ».

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