In a ceremony held at Ministerio de Salud Headquarters, the results of the ‘Genomics of the Chilean population: obtaining genetic profiles needed in clinical research, public health and forensic medicine’ study –also known as ChileGenómico– were presented. The initiative, funded by Fondef, was carried by a multidisciplinary team of researchers from different Chilean universities and institutions that aim to study the Chilean genome. The group expected to find many similarities, but also differences between people from different regions and even different groups in every region.
Center for Mathematical Modeling (CMM) Researchers Álex di Génova, Nicolás Loira and Alejandro Maass played a key role in this project. They were responsible for all aspects of modeling and data analysis. In other words, they gave value to biological data by generating high quality genomes, searching variants and building the Chilegenómico database, which will serve to include in the future more Chilean genomes and enhance medical research with a genetic basis.
The information collected in this project and the experience obtained will be used in the future to include more genomes in the database. This tool will serve to boost studies of our major ancestral groups and address questions about prevalent diseases in our population, in order to design personalized medical treatments.
“We could not have developed this bioinformatic tools without engineers and researchers from the CMM staff. The entire analysis of the complete genome sequence and the development of this database, which provides access to interested scientists from other groups, has been essential”, said Lucía Cifuentes, project director and faculty at Universidad de Chile School of Medicine.
According to Maass, this project “provides the basis to initiate of a more ambitious project to genetically characterize the Chilean population so that we can enter to the era of personalized medicine in a few years and have the genetic basis for facing many diseases specific to different populations in Chile,” and concluded, “no one can do this for us, and it is necessary to enhance clinic research in the country”.
