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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
Students in various biology disciplines needing an understanding of the importance of genetics in studies; Allied health professionals and researchers in biology, oncology, immunology, virology, neuroscience, gene therapy, molecular medicine, and related areas including genetic epidemiology, pharmacogenetics, bioinformatics, molecular biology, systems biology, biomedical engineering, who need to know about genomics to understand social, societal and scientific implications
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
Conservation of Genetic Information
Chapter 4 Growth, Development, and Reproduction
Chromosomes: Number and Nature
Chapter 5 Transmission of Genes
Applying Principles of Gene Segregation to Genetic Counseling
Exceptions to Expected Mendelian Patterns
Chapter 6 Structure of Genes, Chromosomes, and Genomes
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
Chapter 10 Human Individuality
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
Chapter 12 Single-Gene Defects
Terms and Principles
Panorama of Single-Gene Defects
Chapter 13 Multifactorial Traits
Definitions and Formulations
Determining the Role of Genes
Identification of Specific Susceptibility Alleles
Chapter 14 Disorders of Variable Genomic Architecture
Architecture of the Genome
Human Genomic Variation
Chapter 15 Birth Defects
Chapter 16 The Genetics of Cancer
Biology of Cancer
Genomic Approaches to Cancer
The Environment and Cancer
Chapter 17 Detection and Treatment of Genetic Disorders
Stem Cell Therapy
Part 3 Populations and Individuals
Chapter 18 Population and Evolutionary Genetics
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
Genetics and Medicines
Direct-to-Consumer Genomic Tests
APPENDIX 1. Answers to Review Questions
APPENDIX 2. Credits and Permissions
- No. of pages:
- © Academic Press 2012
- 18th May 2012
- Academic Press
- eBook ISBN:
- Hardcover ISBN:
Since 1998, Leon E. Rosenberg has been a professor in the Department of Molecular Biology and the Woodrow Wilson School of Public and International Affairs at Princeton University. From 1991 to 1998, Rosenberg was Chief Scientific Officer of the Bristol-Myers Squibb Company.
During Rosenberg’s 26 year affiliation with Yale, he was the dean of Yale University School of Medicine, research geneticist, clinician, administrator, professor of human genetics, pediatrics, and medicine, and the first chairman of the Department of Human Genetics. Rosenberg and his colleagues conducted pioneering laboratory investigations into the molecular basis of several inherited disorders of amino acid and organic acid metabolism.
Rosenberg received summa cum laude BA and MD degrees from the University of Wisconsin. He completed his internship and residency training in internal medicine at Columbia-Presbyterian Medical Center in New York City. Afterward, he moved to Bethesda, Maryland, to begin a six-year association as an investigator with the metabolism service of the National Cancer Institute.
Dr. Rosenberg's honors include election to the National Academy of Sciences and to the Institute of Medicine, recipient of the Borden Award from the American Academy of Pediatrics and of the Kober Medal from the Association of American Physicians, and honorary Doctor of Science degrees from the University of Wisconsin and the Mt. Sinai School of Medicine. Rosenberg was the medalist for the Australian Society for Medical Research in 2002. He is a past president of the American Society of Human Genetics, the Association of American Physicians, the Funding First Initiative of the Mary Lasker Trust, and the Association of Patient Oriented Research.
Department of Molecular Biology and the Woodrow Wilson School of Public and International Affairs Princeton University Princeton, NJ, USA
Diane Drobnis Rosenberg is the Chief Operating Officer of Meadowgate Farm Alpacas, LLC, in Lawrenceville, NJ. She has been active on numerous boards, including the Foundation for Health in Aging Board for the American Geriatrics Society, the Friends Board of the Institute for Advanced Study, and SAVE, a private Princeton animal shelter.
At companies such as McGraw-Hill, Elsevier Science Publishing, and Williams and Wilkins, Ms. Drobnis Rosenberg acquired and published life sciences books and texts as well as medical journals. In 1990, she started a consulting firm that worked with medical societies on business arrangements for their journals.
Ms. Drobnis Rosenberg was born in Washington, D.C. in 1944 and grew up in Evanston, Illinois. She is an Alumna of Wellesley College where she majored in Biology and also the University of Pennsylvania, where she studied Molecular Biology, having been awarded a NASA traineeship. She has four children and five grandchildren.
Scientific Publishing Consultant, Lawrenceville, NJ
"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." --ANTICANCER RESEARCH 33: 745-746 (2013), February 2013
". . . 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
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