By Dhavendra Kumar, Charis Eng
The 1st version of Genomics and scientific Medicine supplied an outline of genomics-based advances in illness susceptibility, analysis, and prediction of remedy results in quite a few parts of medication. due to the fact its book, the technological know-how of genomics has made great development, and interesting new advancements in biotechnology and bioinformatics have created probabilities that have been unimaginable just a couple of years in the past. This thoroughly revised moment version of Genomic Medicine displays the quickly altering face of utilized and translational genomics within the clinical and health and wellbeing context and gives a entire assurance of ideas of genetics and genomics suitable to the perform of drugs.
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Additional resources for Genomic Medicine: Principles and Practice
Sample text
The traditional genetic categories of diseases include chromosomal disorders, single-gene or Mendelian diseases, and several forms of multifactorial/polygenic conditions. In addition, somatic genetic changes and mutations of the mitochondrial genome probably account for a small, albeit important, number of diseases. These groups of disorders are well recognized and have an established place in the classification of human disease. Recent developments in genome research have provided vast data indicating different genomic mechanisms to explain complex pathogenesis in some disorders.
21 The whole process includes four phases and revolves around the development of evidence-based guidelines. Phase 1 translation G enes , G enetics , and H uman G enomics • 9 (T1) research seeks to move a basic genome-based discovery into a candidate health application, such as a genetic test or intervention. Phase 2 translation (T2) research assesses the value of genomic applications for health practice, leading to the development of evidence-based guidelines. Phase 3 translation (T3) research attempts to move evidence-based guidelines into health practice through delivery, dissemination, and diffusion research.
1 The suffix -omics, derived from the ancient Greek, refers to in-depth knowledge. 2 Currently, we have over 30 such disciplines with the -omics suffix. The ultimate goal of any scientific discipline is its translation for the benefit of all humans, crossing all possible barriers and boundaries. Major advances in medicine and health were only possible through understanding basic principles and mechanisms underlying disease processes. This was facilitated by rapid applications of physical and chemical sciences in medicine and health; for example, X-ray diagnostics, ultrasound diagnosis, microbiology diagnosis, immune-histochemical diagnosis, and finally, molecular diagnosis.