Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
Key Features
Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis.
Illustrates key concepts with disease examples to demonstrate relevance to medicine.
1 Background and History
2 Basic Cell Biology: Structure and Function of Genes and Chromosomes
3 Genetic Variation: Its Origin and Detection
4 Autosomal Dominant and Recessive Inheritance
5 Sex-Linked and Nontraditional Modes of Inheritance
6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease
7 Biochemical Genetics: Disorders of Metabolism
8 Disease-Gene Identification
9 Immunogenetics
10 Genetic Basis of Development
11 Cancer Genetics
12 Multifactorial Inheritance and Common Diseases
13 Genetic Testing and Gene Therapy
14 Genetics and Precision Medicine
15 Clinical Genetics and Genetic Counseling
Glossary
Answers to Study Questions
Index
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