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Genetics and Genomics in Medicine 1st Edition by Judith Goodship, Patrick Chinnery, Tom Strachan ISBN 0815344805 9780815344803

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ISBN 10: 0815344805
ISBN 13: 9780815344803
Author: Judith Goodship, Patrick Chinnery, Tom Strachan

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.

 

Genetics and Genomics in Medicine 1st Edition Table of contents:

CHAPTER 1: Fundamentals of DNA, Chromosomes, and Cells

  • 1.1 The Structure and Function of Nucleic Acids

  • 1.2 The Structure and Function of Chromosomes

  • 1.3 DNA and Chromosomes in Cell Division and the Cell Cycle

CHAPTER 2: Fundamentals of Gene Structure, Gene Expression, and Human Genome Organization

  • 2.1 Protein-Coding Genes

  • 2.2 RNA Genes and Noncoding RNA

  • 2.3 Working Out the Details of Our Genome

  • 2.4 The Organization and Evolution of the Human Genome

CHAPTER 3: Principles Underlying Core DNA Technologies

  • 3.1 DNA Cloning and PCR

  • 3.2 Principles of Nucleic Acid Hybridization

  • 3.3 Principles of DNA Sequencing

CHAPTER 4: Principles of Genetic Variation

  • 4.1 Origins of DNA Sequence Variation

  • 4.2 DNA Repair

  • 4.3 The Scale of Human Genetic Variation

  • 4.4 Functional Genetic Variation and Protein Polymorphism

  • 4.5 Extraordinary Genetic Variation in the Immune System

CHAPTER 5: Single-Gene Disorders: Inheritance Patterns, Phenotype Variability, and Allele Frequencies

  • 5.1 Terminology, Resources, and Pedigrees

  • 5.2 Mendelian and Mitochondrial Inheritance

  • 5.3 Uncertainty and Variability in Mendelian Phenotypes

  • 5.4 Allele Frequencies in Populations

CHAPTER 6: Principles of Gene Regulation and Epigenetics

  • 6.1 Genetic Regulation

  • 6.2 Chromatin Modification and Epigenetic Factors

  • 6.3 Abnormal Epigenetic Regulation and Uniparental Disomy

CHAPTER 7: Genetic Variation Producing Disease-Causing Abnormalities

  • 7.1 Disease-Causing Genetic Variation

  • 7.2 Nucleotide Substitutions and Indels

  • 7.3 Larger-Scale Pathogenic Mutations

  • 7.4 Chromosome Abnormalities

  • 7.5 Variant Effects on Phenotypes

  • 7.6 Protein Structure and Molecular Pathology

  • 7.7 Genotype–Phenotype Correlations

CHAPTER 8: Identifying Disease Genes and Complex Disease Susceptibility

  • 8.1 Identifying Genes in Monogenic Disorders

  • 8.2 Mapping Susceptibility to Complex Diseases

  • 8.3 Genetic Architecture and Environmental/Epigenetic Factors

CHAPTER 9: Genetic Approaches to Treating Disease

  • 9.1 Overview of Genetic Treatment

  • 9.2 Small Molecule Drugs and Therapeutic Proteins

  • 9.3 Gene and Cell Therapy Principles

  • 9.4 Applications and Future Directions

CHAPTER 10: Cancer Genetics and Genomics

  • 10.1 Cancer Fundamentals and Evolution

  • 10.2 Oncogenes and Tumor Suppressor Genes

  • 10.3 Genomic and Epigenetic Instability in Cancer

  • 10.4 Genomewide Studies in Cancer

  • 10.5 Genetic Inroads into Therapy

CHAPTER 11: Genetic Testing and Ethics

  • 11.1 Overview of Genetic Testing

  • 11.2 Technologies for Chromosome and DNA Changes

  • 11.3 Testing for Small-Scale DNA Changes

  • 11.4 Organization of Services and Applications

  • 11.5 Ethical and Societal Considerations

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Tags: Judith Goodship, Patrick Chinnery, Tom Strachan, Genetics, Medicine