The ethnic mix of peoples and migrations throughout its history distinguished the Chilean population. Will be precisely this combination which will decrypt 1000 Genomes Chile, the most ambitious initiative of its kind that has been launched in the country. The project will allow to know the national genetic heritage and brings together various centres of scientific excellence.

17 years ago, an important announcement revolutionized science. The human genome project researchers reported that they had completely read the three billion pieces of code that makes up the human DNA, the culmination of eight years of scientific effort.

Was born an important resource with high expectations. Innovative forms of prevention, diagnosis and treatment of diseases were the promises that are glimpsed.

In Chile, various institutions were added to the study of the genome. But they were separated initiatives.

For this reason, This year was created the project 1000 Genomes Chile, officially launched on 24 August. The initiative is ambitious and. First objective, seeks to know the Chilean genome, through the sequencing of the genome of 1.000 Chilean, and create a public national repository available for scientists and health system.

1 genome is also secuenciará.000 native or introduced species. Thus be revealed how have adapted, to take advantage of genetics as sustainable productive element for the conservation of the natural environment.

The value of DNA

The key player in this process is the DNA. A molecule that is common to all living beings and that it reveals the kinship of all species, explains Miguel Allende, Director of the Center for genome regulation, who leads the project.

This genetic material, densely packed into a tiny space inside each of our cells and all that surround us, Describes, "it is what determines an important part of our features, providing us with a master plan for our construction".

The project brings together several scientific centers of excellence. Genomics is an area that requires diverse knowledge, says Allende, that range from molecular biology to engineering. They are the center of genome regulation (CRG), the center of mathematical modeling, the Center for advanced chronic diseases (ACCDiS ), the Centre of Gerociencia and metabolism, and the Millennium Institute of Integrative Biology.

This task will not be built from scratch, says Allende, Thus the work of dozens of colleagues will be used, at universities and centers of the country that already make genomic both people and non-human species. "Our desire is that these efforts are part of this initiative".

Cohort Maule

Molina has a natural history of chronic diseases. The focus of the study cohort Maule trait, of the ACCDiS, and that is part of the 1000 Genomes.
Sergio Lavandero, Director of the ACCDiS of U. of Chile, It indicates that it is a group of 10.000 people, that will be obtained for project samples. Will be determined the prevalence and dynamics of risk factors associated with the development of chronic diseases, together with identifying associated health events, as quality of life and cognitive performance.
"If we do not investigate it, No one will do it", highlights Lavandero. Because even though the Chilean population has genetic factors common to other Nations, "We also have something that makes us different. The most important thing is to have the genetic patrimony of the Chilean population, It will be available to the Ministry of health, for women who have a susceptibility for certain type of cancer, Browse them, help prevent and know what the best treatment".

In the case of the native flora, the CRG scientists are already working on the sequencing of the Atacama desert plants, they live in very difficult conditions for life. Ariel Orellana, Vice-Rector of research and PhD from U. Andrés Bello, It indicates that the interest is to know what are the mechanisms that have been generated to survive in such extreme conditions.

The country was pioneering initiatives in this matter as genome Chile, the President of Conicyt-driven, Eric Goles, during the administration of Ricardo Lagos, He made advances in genomics resources of economic importance such as the peach, the vine and the Atlantic salmon.

Eventually, that information on the genome from Chilean plants, said Orellana, It would capture information that may be transferable to the agricultural industry and crop. "We are open to discuss different species that have interest in being endemic, that they are unique in a global context", indicates.

What is required now, says Allende, It is the coordination of institutions and teams with the necessary expertise, "as well as a direct support to the development of genomics as part of a national strategy of creating knowledge and increased well-being and competitiveness".

During 2019 will be a so-called public for those who wish to contribute with their genetic information to the program. Donation which will be anonymous, clarifies Allende. His only contribution will translate to find out the average genome in Chile, but they will not know about your data. I.e., Volunteers will not have personalized information about your genome. The project will have its first results in 2019 and end in 2022.