Blood samples arrive. The DNA is extracted. Case studies are prepared and then sent to New York, to the Autism Sequencing Consortium, a group of international scientists who share genetic data on autism.
We are on the third floor of via Santena, Molinette hospital, genetics department: “The data must all be processed in the same way, by the same processor. Otherwise they would not be comparable”, explains Elisa Giorgio, 35, biologist with a degree in Pavia , a post-doctorate at the Città della Salute, for nine years in Turin.
The young biologist signs the study published in the prestigious Cell magazine that classifies and maps the genes involved in autism, a huge database and research that will now continue with another ponderous collection of data and insights.
There are four Piedmontese who put their name at the bottom: two big names, two professors (“structured” as we call ourselves in university jargon) Giovanni Battista Ferrero, pediatric science department at Regina Margherita and Alfredo Brusco, medical genetics. In addition to Elisa Giorgio, the fourth name is that of Evelise Riberi, who has finished her doctorate and has now left. She was involved in the first part of the study, sample management, finished her doctorate and is now mom.
Professor Brusco now works with a team of nine women. Ferrero recently collaborated with a PhD student. At his side Diana Carli, pediatrician, deals with the research of the sample families participating in the study. Brusco is a close-knit team: “A few years ago there were also some men but now no longer – says Elisa – If there is a difference it is that women more easily accept precariousness. I have been married for six years, a man in the my condition would be more intolerant to the precarious condition “.
From New York, the data sent to the Consortium return to Turin: “They are raw data that must be analyzed – says Elisa – For each person there are 40 thousand variants of DNA bases. To give an idea, for each family we imagine receiving from America a 10 gigabyte stick that goes to the group of bioinformaticians. Their job is to make them readable. ” The work of the team headed by Brusco becomes meticulous starting from this “translation”.
How long does it take to get the picture? “Four to six months for each household.” Lisa Pavinato, a graduate in biotechnology, works alongside her and is only 25 years old. There is Lisa Cardaropoli, laboratory technician. Elisa has been in Turin since 2011, a salary of 1700 euros: “I’m lucky, the average post-doctoral degree is lower. it tells us that there are over a thousand genes involved. The research allowed us to identify 102 genes associated with autism spectrum disorders. Of these 30 never described before “.