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Role of Genetic Variations in Human Diseases - Research Paper Example

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It is now a reality that the vast majority of the human genome has been sequenced in the laboratory; however, this has been possible due to numerous conceptual and technological advances in the area of genetics and related technologies. This had been a process of evolution where over time scientists were able to elucidate the DNA double-helix structure, discover the restriction enzymes, and eventually the polymerase chain reaction (PCR)…
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Role of Genetic Variations in Human Diseases
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Download file to see previous pages Sufficient advances have been made to date in the area of understanding disease etiology and pathogenesis from the perspective and context of genetic variation as a driver, and with development of modern genetic laboratory technologies, it is now a reality that in the near future, there would be increasing role for genetics in the diagnosis, prevention, and treatment of complex diseases, almost all except those caused by trauma.

In fact following the knowledge accumulation from the Human Genome Project, the causation of common and complex diseases in relation to genetic variation in the fields of molecular epidemiology, medicine, and pharmacogenomics was a prime research interest. This was in sharp contrast with the traditional approach of studying human diseases contemplated to be caused by relatively rare single-gene diseases, which cumulatively account for merely 10% of diseases apparent in the pediatric age group. However, in reality, the post Human Genome Project research in this field is tending to increasingly demonstrate that virtually every medical condition has a genetic component. There is, however, considerable difficulty in characterizing these conditions since there is a vast number of genetic variations and their combinations, synergistic effects of multiple causative genes, and reactions of genetic traits with environmental factors, all of which may play roles together to cause manifestations of a complex disease. Disease loci of single gene variations through Mendelian inheritance have been successfully mapped; however, delineating the genetic variations and determinants had been more difficult and is a comparatively newer area of research. Currently, significant advances in the area of Bioinformatics have increased the possibilities of successful investigations about the genetic determinants of complex diseases.
As is often evident from a patient's family history, many common disorders such as hypertension, heart disease, asthma, diabetes mellitus, and mental illnesses are significantly influenced by the genetic background. These polygenic or multifactorial disorders involve the contributions of many different genes, as well as environmental factors that can modify disease risk. Cancer has a genetic basis since it results from acquired somatic mutations in genes controlling growth and differentiation. In addition, the development of many cancers is associated with a hereditary predisposition. The prevalence of genetic diseases, combined with their severity and chronic nature, imposes a great financial, social, and emotional burden on society, and therefore research in this area is strongly indicated to solve the problems of application of this science into accurate characterization of the disease processes, so a clinical and therapeutic solution for these problems are accessible to both the medical community and the patients. While traditionally and historically, genetics has focused its attention on Mendelian causation of chromosomal and metabolic disorders such as trisomy 21, Turner Syndrome and ...Download file to see next pagesRead More
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