Basic concepts of medical genetics,pathogenetics: Part 1

The term pathogenetics has been coined to encompass the variousand different mechanisms involved in pathogenesis of genetic diseases. It comprises the study of mutations, the study of mutagens, the study of the different pathogenetic mechanisms that result from disordered gene functions secondary to the change of gene structure, the study of the pathophysiological alterations in cellular functions secondary to the ensuing disturbances of the metabolic-regulatory networks that mediate and control these functions and, finally, the study of pathogenesis of genetic diseases.