- Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics.- Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. - Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos.
Chapter 1 Introduction
Chapter 2 Introduction to the Human Genome
Chapter 3 The Human Genome: Gene Structure and Function
Chapter 4 Human Genetic Diversity: Mutation and Polymorphism
Chapter 5 Principles of Clinical Cytogenetics and Genome Analysis
Chapter 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
Chapter 7 Patterns of Single-Gene Inheritance
Chapter 8 Complex Inheritance of Common Multifactorial Disorders
Chapter 9 Genetic Variation in Populations
Chapter 10 Identifying the Genetic Basis for Human Disease
Chapter 11 The Molecular Basis of Genetic Disease
Chapter 12 The Molecular, Biochemical, and Cellular Basis of Genetic Disease
Chapter 13 The Treatment of Genetic Disease
Chapter 14 Developmental Genetics and Birth Defects
Chapter 15 Cancer Genetics and Genomics
Chapter 16 Risk Assessment and Genetic Counseling
Chapter 17 Prenatal Diagnosis and Screening
Chapter 18 Application of Genomics to Medicine and Personalized Health Care
Chapter 19 Ethical and Social Issues in Genetics and Genomics
Roderick R. McInnes Alva Chair in Human Genetics, Canada Research Chair in Neurogenetics, Professor of Human Genetics and Biochemistry, Director, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
Huntington F Willard Director and Principal, Geisinger National Precision Health, North Bethesda, Maryland, USA.
Huntington Willard is on the faculty of the Department of Human Genetics at the University of Chicago. Prior to this appointment, Willard was the President and Director of the Marine Biological Laboratory and Professor of Human Genetics at the University of Chicago. He was previously on the faculty at Duke University, where he was founding director of the university-wide Duke Institute for Genome Sciences & Policy from 2003 to 2014, the Nanaline H. Duke Professor of Genome Sciences, and the Arts & Sciences Professor of Biology & Genome Sciences.