COVID-19 Update: We are currently shipping orders daily. However, due to transit disruptions in some geographies, deliveries may be delayed. To provide all customers with timely access to content, we are offering 50% off Science and Technology Print & eBook bundle options. Terms & conditions.
Human Genes and Genomes - 1st Edition - ISBN: 9780123852120, 9780123852137

Human Genes and Genomes

1st Edition

Science, Health, Society

Authors: Leon Rosenberg Diane Rosenberg
eBook ISBN: 9780123852137
Hardcover ISBN: 9780123852120
Imprint: Academic Press
Published Date: 18th May 2012
Page Count: 446
Sales tax will be calculated at check-out Price includes VAT/GST
Price includes VAT/GST

Institutional Subscription

Secure Checkout

Personal information is secured with SSL technology.

Free Shipping

Free global shipping
No minimum order.


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


No. of pages:
© Academic Press 2012
18th May 2012
Academic Press
eBook ISBN:
Hardcover ISBN:

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


"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

Ratings and Reviews