Complete genome mapping identifies disease causes, says researcher

In an interview with CNN this Wednesday (1st), the geneticist and director of the Human Genome Studies Center at the University of São Paulo (USP), Mayana Zatz, explained the announcement that a team of 99 scientists deciphered the entire human genome.

A first sketch had been completed in 2003, but, according to her, some genes were missing. “Our group identified more than 20 genes in addition to those that were already known, related to genetic diseases, the leap we made was huge, the first sequencing took 13 years to be done at a cost of 3 billion dollars, and today it takes hours at a cost of less than a thousand dollars”.

According to the researcher, when sequencing the genome, something similar happens to what happens when “one reads an excerpt from a book, in a language I don’t understand”: “Our group was interested in understanding what they do, which protein is encoded, we studied genetic diseases, we identify which gene they cause and why, and then discover the function of the gene”.

The next step, then, is “to understand why some people have this mutation and have a severe condition and others who have the same mutation have a mild condition, which mechanisms protect it, we are focused on possible treatments”.

Mayana stressed, however, that technologies to alter genes and, based on them, be able to cure genetic diseases, should only have a result in the medium term.

Produced by Bel Campos, from CNN.