Advances and Perspectives of Genetic Pathologies in the 21st century.

Introduction: The discovery of deoxyribonucleic acid in 1953 marks the difference between classical genetics that was based on clinical observation to make diagnoses and perform genomic modifications empirically, which triggered a series of genetic aberrations that compromise the dignity of the human being and the new genetics, an era that allowed understanding the starting point in the mechanisms of regulation and gene expression and its role when coding DNA which has allowed the study of diseases of genetic or hereditary origin and give a targeted treatment. The new genetics brings with it novel tools to objectify the alterations that occur either at the level of genes, chromosomes or multifactorial disorders and to be able to identify and classify them in a pertinent manner, simplifying the understanding of these pathologies. Objective: This article aims to keep the scientific community updated on the different genetic pathologies and their classification taking into account the nomenclature and key points of each one. Methodology: A review of scientific articles was performed in databases such as Pubmed, Web of Science, Dynamed and Uptodate, with search terms for artificial intelligence in medicine, clinical research, legal framework, bioethical principles, automated analysis, among others. No language restrictions were applied. Medical subject headings (MeSH) were used. Additionally, reference lists, review articles and grey literature were manually searched for relevant articles not captured in the electronic scan. Conclusion: Human genetics and its pathologies are of constant interest, since through its knowledge different DNA variants of the coding and replication process are explained, knowing the latest definitions covering the subject is of great importance for its understanding.