O genoma humano e as perspectivas para o estudo da esquizofrenia

Abstract

The sequencing of our genome represents an essential step in the comprehension of the human biology and in the rational planning of biomedical research. However, it is important to realize that the sequencing of a genome is only a piece of a complex puzzle. The genetic information must be used as a "map", the starting-point to understand the basis of the diseases and the importance of the genetic variation through the analysis of the complexity and behavior of the regulatory regions, genes and proteins, gene functions and cellular systems. Despite the enormous efforts made towards the identification of susceptibility genes for schizophrenia, the results of molecular genetics studies have been modest. The appropriate use of genomics should add more information to help the elucidation of the causes of the schizophrenia, supporting areas such as gene discovery, determination of genetic variations, alternative splicing, analysis of diferential gene expression and in the study of metabolic pathways of interest. The convergence of data from studies of biochemistry, imaging, neuroanatomy, pharmacology, clinical and genetics allows to foresee that we should be near to a better understanding of the biological basis of schizophrenia. The availability of these advances will have a dramatic impact on the research of this disease.