Human Genetics & Embryology

Medical Genetics: Problems and Approaches

Abstract

Mohammad Saad Zaghloul Salem

Radical prevention of genetic diseases and genetically-determined defects, through efficient prophylactic and effective curative approaches, represents the final goal of medical genetics. However, success in achieving this objective is totally dependent on comprehensive understanding of all structural and functional aspects of the human genome, transcriptome and proteome. A lot of perplexing phenomena and enigmatic problems in medical genetics, as well as in human genetics, are awaiting this understanding to be disclosed, e.g. genomic imprinting, spontaneous mutation, evolutionary adaptations, apoptosis, carcinogenesis, functions of pyknons, significance of transposons, roles of micro RNAs and many others. Although the human genome project is steadily progressing towards full structural characterization of the human genome, a parallel human genome function project is indispensable for finalizing our knowledge of our genetic constitution. Similarly, human proteome structure and human proteome function projects are necessary for the same purpose. The extreme complexity of the structure of the human genome and human proteome necessitates new accurate analytical methods to study and understand the behavior and capabilities of both of these structured biosystems. These methods should rely on laws of thermodynamics, principles of quantum mechanics and, even, concepts of nanosciences. It is hoped that these new research approaches will help in revealing and defining the underlying mechanisms responsible for maintaining integrity, stability and identity of the genome and proteome which represent prerequisite knowledge needed for controlling and directing the functions of both of them for attaining optimal health and welfare of human beings. The present article shortly addresses some of the aforementioned problems and tries to offer few hypotheses, interpretations and proposals that might prove helpful in this respect.