1. Fundamentals of DNA, Chromosomes, and Cells
2. Fundamentals of Gene Structure, Gene Expression, and Human Genome Organization
3. Principles Underlying Core DNA Technologies
4. Principles of Genetic Variation
5. Single-gene Disorders: Inheritance Patterns, Phenotype Variability, and Allele Frequencies
6. Principles of Gene Regulation and Epigenetics
7. Genetic Variation Producing Disease-Causing Abnormalities in DNA and Chromosomes
8. Identifying Disease Genes and Genetic Susceptibility to Complex Disease
9. Genetic Approaches to Treating Disease
10. Cancer Genetics and Genomics
11. Genetic Testing From Genes to Genomes, and the Ethics of Genetic Testing and Therapy
Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how genetics and genomics affect 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 diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights into its molecular basis and approaches to its detection gained from cancer genomics. Specific topics, including multiple examples of clinical disorders, molecular mechanisms, and technological advances, are profiled in boxes throughout the text.
Recent advances covered in the book include:
- Mechanisms that explain how environmental factors contribute to disease by directly altering epigenetic settings.
- Noninvasive prenatal testing (NIPT) and screening using massively parallel DNA sequencing.
- The use of chromosome microarray technology and targeted genome sequencing in genetic testing.
- Clinical and public health genomics.