Michael Snyder's Genomics and Personalized Medicine: What Everyone Needs to PDF

By Michael Snyder

ISBN-10: 0190234768

ISBN-13: 9780190234768

ISBN-10: 0190234776

ISBN-13: 9780190234775

In 2001 the Human Genome venture succeeded in mapping the DNA of people. This landmark accomplishment introduced the sector of genomics, the built-in research of all of the genes within the human physique and the similar biomedical interventions that may be adapted to learn a person's healthiness.

Today genomics, a part of a bigger stream towards customized medication, is poised to revolutionize wellbeing and fitness care. via cross-referencing an individual's genetic series — their genome — opposed to recognized parts of "Big Data," parts of genomics are already being integrated on a frequent foundation, together with prenatal disorder screening and specified melanoma remedies. With extra ideas quickly to reach on the bedside, the promise of the genomics revolution is unlimited.

This access within the What every body must comprehend sequence bargains an authoritative source at the customers and realities of genomics and customized medication. As this technology keeps to change conventional clinical paradigms, shoppers are confronted with extra concepts and extra complex judgements concerning their wellbeing and fitness care. This publication offers the fundamental info every body wishes.

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Extra resources for Genomics and Personalized Medicine: What Everyone Needs to Know

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We also have a number of genes that encode factors that put the brakes on uncontrolled cell proliferation. These genes are called tumor suppressor genes and generally both copies of the gene must be mutated for a cancer-​promoting effect. In general, development of cancer requires mutations in several different genes—​cancers have multigenic causation. This is because there are multiple mechanisms at work in normal cells to ensure that cell growth and division occur at the appropriate times in the proper locations.

With the ability to sequence whole genomes and exomes, attention has quickly turned to trying to understand the full spectrum of genetic mutations that underlie cancer. Every tumor is different and has a different genomic profile. 2. Certain mutations are common in specific cancers. For example, many cancers have mutations in the tumor suppressor gene, TP53; many colon and ovarian cancers have mutations in the RAS pathway; and 40%–​60% of melanomas have a very specific mutation in the BRAF proto-​oncogene.

For example, different variants may have different effects on the amount of the encoded protein or the activity of the encoded protein. Indeed, the 3,963 unique diseases that have been solved affect only 2,776 genes because different mutations in the same gene can cause different (but often related) disease characteristics. It is probable that many more Mendelian diseases have yet to be described. There are approximately 20,000 protein-​coding genes in the human genome, and variants in many of these genes would be expected to cause human disease.

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Genomics and Personalized Medicine: What Everyone Needs to Know by Michael Snyder


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