Medical Genetics
Medical Genetics,
Edition 6
By Lynn B. Jorde, PhD, John C. Carey, MD, MPH and Michael J. Bamshad, MD

Publication Date: 16 Dec 2019

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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.

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.
  • 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.
About the author
By Lynn B. Jorde, PhD, Professor, Mark and Kathie Miller Presidential Chair, Department of Human Genetics,University of Utah Health Sciences Center, Salt Lake City, UT; John C. Carey, MD, MPH, Professor, Division of Medical Genetics, Department of Pediatrics,University of Utah Health Sciences Center, Salt Lake City, UT and Michael J. Bamshad, MD, Professor, Division of Genetic Medicine, Department of Pediatrics,University of Utah Health Sciences Center, Salt Lake City, UT
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

Book details
ISBN: 9780323597371
Page Count: 342
Illustrations: Approx. 291 illustrations (255 in full color)
Retail Price: £44.99