Human Genes and Genomes: Science, Health, Society

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines.

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 diseaseIncludes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and moreExplores ethical, legal, regulatory and economic aspects of genomics in medicineIntegrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics

Part 1 Introduction and Core Concepts 1. Framing the Field 2. Introducing the CORE CONCEPTS 3. Genetic Variability 4. Growth, Development, and Reproduction 5. Transmission of Genes 6. Structure of Genes, Chromosomes, and Genomes 7. Expression of Genes and Genomes 8. Mutation 9. Biological Evolution 10. Human Individuality

Part 2 Genetic Disorders 11. Chromosome Abnormalities 12. Single-Gene Defects 13. Multifactorial Traits 14. Disorders of Variable Genomic Architecture 15. Birth Defects 16. The Genetics of Cancer 17. Detection and Treatment of Genetic Disorders

Part 3 Populations and Individuals 18. Population and Evolutionary Genetics 19. Personalized Genetics and Genomics