Human Genes and Genomes

Human Genes and Genomes

Science, Health, Society

1st Edition - May 18, 2012

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  • Authors: Leon Rosenberg, Diane Rosenberg
  • eBook ISBN: 9780123852137
  • Hardcover ISBN: 9780123852120

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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.

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


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

Table of Contents

  • 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

    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


    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


    Embryonic Development

    Developmental Genetics


    Illustrative Examples

    Chapter 16 The Genetics of Cancer


    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


    Genetic Counseling


    Gene Therapy

    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

    DNA Fingerprinting

    Genetics and Medicines



    Direct-to-Consumer Genomic Tests


    Additional Reading

    APPENDIX 1. Answers to Review Questions

    APPENDIX 2. Credits and Permissions

Product details

  • No. of pages: 446
  • Language: English
  • Copyright: © Academic Press 2012
  • Published: May 18, 2012
  • Imprint: Academic Press
  • eBook ISBN: 9780123852137
  • Hardcover ISBN: 9780123852120

About the Authors

Leon Rosenberg

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.

Affiliations and Expertise

Department of Molecular Biology and the Woodrow Wilson School of Public and International Affairs Princeton University Princeton, NJ, USA

Diane Rosenberg

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.

Affiliations and Expertise

Scientific Publishing Consultant, Lawrenceville, NJ

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