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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… Read more
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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
History
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
Uniqueness
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
Introduction
Embryonic Development
Developmental Genetics
Teratogens
Illustrative Examples
Chapter 16 The Genetics of Cancer
Overview
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
Detection
Genetic Counseling
Treatment
Gene Therapy
Stem Cell Therapy
Part 3 Populations and Individuals
Chapter 18 Population and Evolutionary Genetics
Terminology
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
Pharmacogenetics
Pharmacogenomics
Direct-to-Consumer Genomic Tests
Glossary
Additional Reading
APPENDIX 1. Answers to Review Questions
APPENDIX 2. Credits and Permissions
LR
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.
DR
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.