Using Conceptual Model Technologies for Understanding the Human Genome: From an 'Homo Sapiens' to an 'Homo Genius'

摘要

Everybody accepts that understanding the Human Genome is a big challenge for the humanity. It will take at the very least decades to achieve such a goal reasonably well. But new advances that are showing promising results come continuously. Day after day new data is provided and new information is derived from them. As DNA sequencing technologies improve and evolve, it is evident that the rate of data generation at a local level is increasing dramatically. In this scenario, assuring the interoperability and consistence of data at the global level becomes both a challenge and a need. To face these problems adequately, the most advanced Information Systems design technologies are strongly required, to cover the needs of better data capture, organization and storage, improved data analysis and interoperability, and more efficient data standardization with the support of foundational ontologies. This principle is in the "Genome" of this keynote. Using Advanced Conceptual Model and Data Technologies, there is an opportunity to understand the secrets of life that the Genome Code hides. More and more data that relate genotype and phenotype are available, with especially attractive clinical applications. These ideas will be approached in the keynote, showing that the challenge of understanding the human genome can suppose a conceptual revolution: understanding the genome could allow improving human being features, something never before in the hand of we, humans. This is the idea of the title: Homo Sapiens becoming Homo Genius being able to understand and manage the principles of life, and subsequently improve then.