Thompson and Thompson Genetics in Medicine

Huntington Willard is President and Director of the Marine Biological Laboratory and Professor of Human Genetics at the University of Chicago. Prior to his appointment at the MBL, Willard was 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.

Introduction 1.Chromosomal Basis of Heredity 2.The Human Genome: Structure and Function of Genes and Chromosomes 3.Tools of Human Molecular Genetics 4.Principles of (Clinical) Cytogenetics 5.Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes 6.Mechanisms of Inheritance part I: Mendelian (or Single-Gene) Patterns 7.Mechanisms of Inheritance part II: Mitochondrial, Imprinted, and Multifactorial Patterns 8.Genetic Variation in Individuals and Populations 9.The Genetic Contribution to Disease: Locating and identifying Disease Genes 10.Principles of Molecular Disease: Lessons from the Hemoglobinopathies 11.The Molecular and Biochemical Basis of Genetic Disease 12.The Treatment of Genetic Disease 13.Developmental Disorders and Birth Defects (Leslie Biesecker) 14.Genetics of Cancer 15.Genetic Counseling and Risk Assessment 16.Molecular Diagnostics 17.Prenatal Diagnosis 18.Genetics and Society Case Studies