Key Features
- Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease
- Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more
- Explores ethical, legal, regulatory and economic aspects of genomics in medicine
- Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics
Part 1 Introduction and Core Concepts
Chapter 1 Framing the Field
Rationale for Studying Genetics and Genomics
Why Study Human Genetics and Genomics Now?
Divergent Public Reactions to the Field
Anticipated Returns on Educational Investment
Chapter 2 Introducing the CORE CONCEPTS
Chapter 3 Genetics
Heredity and Variation
History
Conservation of Genetic Information
Human Variation
Chapter 4 Growth, Development, and Reproduction
Chromosomes: Number and Nature
Cell Division
Prenatal Development
Chapter 5 Transmission of Genes
Familial Similarities
Mendelian Inheritance
Applying Principles of Gene Segregation to Genetic Counseling
Exceptions to Expected Mendelian Patterns
Mitochondrial Inheritance
Chapter 6 Structure of Genes, Chromosomes, and Genomes
Gene Composition
From Genes and Chromosomes to Genomes
Chapter 7 Expression of Genes and Genomes
Gene Expression: History of Research
The Ribonucleic Acids (RNAS)
The Genetic Code
Chapter 8 Mutation
Nature of Mutations
Chapter 9 Biological Evolution
Historical Evidence Supporting the Theory of Biological Evolution
Evolutionary Principles
Molecular Evolution
Chapter 10 Human Individuality
Uniqueness
Early Observations Regarding Uniqueness
Lessons from Genomics
Part 2 Genetic Disorders
Chapter 11 Chromosome Abnormalities
Introduction to Cytogenetics
Clinical Indications for Chromosome Analysis
Impact of Chromosome Abnormalities on Health
Types of Chromosome Abnormalities
Illustrative Examples
Chapter 12 Single-Gene Defects
Archibald Garrod
Terms and Principles
Panorama of Single-Gene Defects
Illustrative Examples
Chapter 13 Multifactorial Traits
Definitions and Formulations
Determining the Role of Genes
Identification of Specific Susceptibility Alleles
Illustrative Examples
Chapter 14 Disorders of Variable Genomic Architecture
Architecture of the Genome
Human Genomic Variation
Illustrative Examples
Chapter 15 Birth Defects
Introduction
Embryonic Development
Developmental Genetics
Teratogens
Illustrative Examples
Chapter 16 The Genetics of Cancer
Overview
Biology of Cancer
Cancer Genetics
Cancer Genes
Genomic Approaches to Cancer
The Environment and Cancer
Illustrative Examples
Chapter 17 Detection and Treatment of Genetic Disorders
Detection
Genetic Counseling
Treatment
Gene Therapy
Stem Cell Therapy
Part 3 Populations and Individuals
Chapter 18 Population and Evolutionary Genetics
Terminology
The Hardy-Weinberg Law
Factors that Perturb Hardy-Weinberg Equilibrium
Ancestry and Disease in the Genomic Era
Evolution in Populations
Societal Debates about Evolution: Science Versus Religion
Chapter 19 Personalized Genetics and Genomics
DNA Fingerprinting
Genetics and Medicines
Pharmacogenetics
Pharmacogenomics
Direct-to-Consumer Genomic Tests
Glossary
Additional Reading
APPENDIX 1. Answers to Review Questions
APPENDIX 2. Credits and Permissions
