Human Genes and Genomes : Science, Health, Society

* ''. . . a beautifully written and insightful genetics book that hits all the right notes. Major principles are illustrated in the context of real disease, both Mendelian and complex, which keeps the relevance high.'' **Michael J. Dougherty, PhD, Director of Education, American Society of Human Genetics** ''This thoughtful and scholarly book, teaching about common traits and rare inherited disorders, is beautifully written and accessible to science students and non-science students alike.'' **Margretta Seashore, MD, Director, Genetic Consultation Service and Director, Biochemical Disease Detection Laboratory, Department of Laboratory Medicine, Yale University School of Medicine** ''A master story teller and one of the founders of the field, Rosenberg tells the story of human genetics as few others can - anchored in history but with a fresh eye towards what the study of the human genome teaches us about genes and their importance for both biology and medicine.'' **Huntington F. Willard, PhD, Director, Duke Institute for Genome Sciences & Policy, Duke University** Content: Front Matter , Page iii Copyright , Page iv Dedication , Page v About the Authors , Page xi Foreword , Pages xiii-xiv Preface , Pages xv-xxii Acknowledgements , Page xxiii Chapter 1 - Framing the Field , Pages 3-8 Chapter 2 - Introducing the CORE CONCEPTS , Pages 9-18 Chapter 3 - Genetics , Pages 19-26 Chapter 4 - Growth, Development, and Reproduction , Pages 27-50 Chapter 5 - Transmission of Genes , Pages 51-73 Chapter 6 - Structure of Genes, Chromosomes, and Genomes , Pages 75-96 Chapter 7 - Expression of Genes and Genomes , Pages 97-116 Chapter 8 - Mutation , Pages 117-124 Chapter 9 - Biological Evolution , Pages 125-133 Chapter 10 - Human Individuality , Pages 135-138 Chapter 11 - Chromosome Abnormalities , Pages 141-167 Chapter 12 - Single-Gene Defects , Pages 169-196 Chapter 13 - Multifactorial Traits , Pages 197-226 Chapter 14 - Disorders of Variable Genomic Architecture , Pages 227-239 Chapter 15 - Birth Defects , Pages 241-258 Chapter 16 - The Genetics of Cancer , Pages 259-288 Chapter 17 - Detection and Treatment of Genetic Disorders , Pages 289-314 Chapter 18 - Population and Evolutionary Genetics , Pages 317-338 Chapter 19 - Personalized Genetics and Genomics , Pages 339-358 Glossary , Pages 359-371 Additional Reading , Pages 373-378 Appendix 1 - Answers to Review Questions , Pages 379-396 Appendix 2 - Credits and Permissions , Pages 397-403 Index , Pages 405-421 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 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

"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."--Publisher's website