Genetics and Genomics in Medicine

Abstract

"Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common complex diseases. The detailed, integrative coverage of genetic approaches to treatment and prevention includes pharmacogenomics and the prospects for personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights from cancer genome sequencing. Clinical disorders are covered throughout and there are extensive end-of-chapter questions and problems"-- Fundamentals of DNA, chromosomes, and cells -- Fundamentals of gene structure, gene expression, and Human Genome Organization -- Principles underlying core DNA technologies -- Principles of genetic variation -- Single-gene disorders: inheritance patterns, phenotype variability, and Allele frequencies -- Principles of gene regulation and epigenetics -- Genetic variation producing disease-causing abnormalities in DNA and chromosomes -- Identifying disease genes and genetic susceptibility to complex disease -- Genetic approaches to treating disease -- Cancer genetics and genomics -- Genetic testing from genes to genomesm and the ethics of genetic testing and therapy.