Medical Genetics 6th Edition

By (author) Jorde Lynn B.; By (author) John C. Carey; By (author) Bamshad Michael J.
Description:
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. 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 Offers a completely updated discussion of genetic testing modalities and applications Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses Illustrates key concepts with disease examples to demonstrate relevance to medicine Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices
Table of contents:
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 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
Endorsement:
A highly visual, clinical approach to medical genetics