The future of our health is written in the genome - Quotidiano.net

Into The bet San Raffaele Hospital: quickly decipher the genetic code to customize prevention, diagnosis and treatment

Into Milan, June 5, 2013 – A double helix of cyclopean proportions, as if suspended between the earth and the sky, stands in front of the entrance to the center of translational genomics and bioinformatics founded in 2011, directed by Professor Giorgio Casari and Dr. Elia Stupka. It ‘s the place, the only one of its kind in Italy, where you run the rapid sequencing of the entire DNA.

Starting by the filaments contained in a few drops of blood machines disassemble and reassemble, one after another, the bricks that form the characters of an individual . Pioneers in this institution have been deciphered and interpreted 1,375 samples and researchers have participated in over 80 projects of international importance. “The ability to sequence the genome in a short time and the prospects offered by bioinformatics applied to genomics – explains Elia Stupka – allow new approaches to the study of individual genetic variability and the identification of genes and risk factors associated with genetic diseases and multifactorial, such as cancer, diabetes and neurodegenerative diseases. “

Into For example, the group led by Filippo Martinelli Boneschi , in the department of neurology directed by Professor Giancarlo Comi, investigates the origins of multiple sclerosis, try to find out why it is spreading in women, and it appears with more insistently in certain families. Understanding the mechanisms that lead to disability will be useful to develop targeted therapies. The applications do not stop there.

One line of research focuses on the prevention of cardiovascular disease (heart attack and thrombosis). The sequencing also applies to the diagnosis of rare diseases, with hundreds of faults from the genesis still obscure. The Urology San Raffaele, for its part, seeks to identify the predisposition to prostate cancer passed on from father to son. Encyclopedia The gene consists of three billion characters and it contains the information needed to run the body. The reading of the DNA opens the way to the goal of personali zed medicine. On these columns, let us witness the work of a group that has not stopped the face of difficulties.

withdrawal. DNA testing is the study of the genetic individual and you are analyzing a blood or saliva sample. Such a test allows in many cases the diagnosis of rare diseases and to calculate the genetic risk of some complex diseases, such as cancer, diabetes or cardiovascular disease.

Analysis. The biological sample of the individual is prepared so as to be subsequently analyzed by the instrument that must decrypt a gene after the other, called phase sequencing and that requires ten days. Are identified as genes that predispose to metabolic diseases such as diabetes or that make a particular organ most vulnerable.

report. After sequencing a need “to confuse this” and communicate the enormous amount of data collected, and this last operation takes up to three months. The Center for T ranslational Genomics Bioinformatics (CGTB) is the protagonist of the campaign for the year 2013 5xmille San Raffaele Hospital (www.5xmille.org). The institute Milan is considering the possibility of opening the DNA sequencing service also outside, in addition to continuing the activity that is already being carried out to support the clinical and scientific research at the San Raffaele.

How much . The current cost of genome sequencing does not allow for the large-scale testing. Nowadays the amount of the examination is around ten thousand dollars, but is gradually reduced, last year it cost 20 thousand € 100 thousand and three years ago. About diagnosis, it is preferable to test specific parts of the genome. There are also specific tests that cost less than a thousand euro. The susceptibility to a complex disease should be interpreted as a risk warning and not as a diagnosis.

pros and cons. The reading of the DNA can also be do ne just to know their genetic heritage, the origins of their ancestors, to evaluate the effectiveness of a drug or to prevent the onset of diseases, but the fate is unpredictable. Edward Boncinelli, physicist and geneticist, shares the view that the tests do-it-yourselfers are reliable as long as managed by an expert. ” Renato Balduzzi, former minister of health, it is rather critical: “We must avoid that genetics will become a business.”

Into Service of Alexander Malpelo

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