EPIGENETICS: FUNDAMENTAL MECHANISMS, POTENTIAL CLINICAL APPLICATIONS, AND ETHICAL ISSUES

Resumo

Epigenetics, defined as the study of changes in gene expression or cellular phenotype brought about by mechanisms that do not involve alterations in the DNA sequence, introduces a layer of biological complexity ‘above’ that of traditional genetics. The aim of this paper is to offer a brief reflection upon the principal concepts of epigenetics, its potential clinical applications, and the ethical questions involved in this science. In contrast to DNA mutations, epigenetic modifications are generally reversible. They play an essential role in regulating gene expression and are fundamental to processes such as development and cellular differentiation, thereby allowing cells with identical genetic material to perform distinct functions. Furthermore, relevant aspects concerning the now ubiquitous convergence between epigenetics and artificial intelligence are discussed, albeit briefly. Such developments present a significant ethical challenge for humanity; after all, for whom, and in whose service, will these technologies be made available?