Emery and Rimoin's Principles and Practice of Medical Genetics

6th Edition

Editors: David Rimoin Reed Pyeritz Bruce Korf
Hardcover ISBN: 9780123838346
eBook ISBN: 9780123838353
Imprint: Academic Press
Published Date: 20th March 2013
Page Count: 4700
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485.00 + applicable tax
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Institutional Access


For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice.

With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application.

Key Features

  • Features 174 review-length contributions that encompass traditional and new areas of the field - including in cancer genetics, genomic technologies, and molecular assays
  • Provides many thousands of pertinent literature references guiding the reader in identifying related topics
  • Fully illustrated with hundreds of color images, supporting identification, concept illustration and method processing


Medical and research libraries and institutions serving researchers of human genetics/genomics; cancer, neuroscience, metabolic, endocrinology, pharmacology, behaviour, immunology, hematology, orthopaedic, pediatric, gene therapy researchers; advanced students, specialists, and medical practitioners across medical disciplines as well systems biology, molecular medicine, and genetic epidemiology.

Table of Contents



Personal Memories of David Rimoin

Basic Principles

Chapter 1. History of Medical Genetics

1.1 Preface (Peter Harper)

1.2 Introduction

1.3 Foundations of Medical Genetics Before 1956

1.4 Growth and Development of Medical Genetics: 1956 to the Present

1.5 The Future

1.6 Addendum (PSH)

1.7 A Timeline for Medical Genetics


Further Reading

Chapter 2. Medicine in a Genetic Context

2.1 Introduction

2.2 The Principles of Disease

2.3 Defining Disease

2.4 The How Questions

2.6 The Why Questions

2.7 Prevention and Treatment

2.8 Conclusion


Chapter 3. Nature and Frequency of Genetic Disease

3.1 Introduction

3.2 Frequency of Genetic Disease

3.2.2 Single-Gene Disorders

3.2.3 Multifactorial Disorders

3.2.4 Somatic Cell Genetic Disorders

3.3 Morbidity and Mortality Due to Genetic Disease


Chapter 4. Genomics and Proteomics

4.1 Genes and Human Disease

4.2 Genomics

4.3 Mapping the Human Genome

4.4 Sequencing the Human Genome

4.5 Current Apporaches to Sequence Parts or the Whole Human Genome

4.6 An Approach for Cloning Human Disease Genes

4.7 Sequence-Based Methods for Detecting Chromosomal Abnormalities

4.8 Proteomics



Chapter 5. Genome and Gene Structure

5.1 Introduction

5.2 Double Helix Structure, DNA Replication, Transcription, and Meiotic Recombination

5.3 Organization of Genomic DNA

5.4 Gene Structure and the Molecular Pathway of Gene Expression


Chapter 6. Epigenetics

6.1 Introduction

6.2 Epigenetic Mechanisms: Chromatin, DNA Methylation and Long Noncoding RNAs

6.3 Epigenetic Reprogramming



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Academic Press
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About the Editor

David Rimoin

Affiliations and Expertise

Medical Genetics Institute, Los Angeles, CA, USA

Reed Pyeritz

Affiliations and Expertise

University of Pennsylvania School of Medicine, Philadelphia, PA, USA

Bruce Korf

Affiliations and Expertise

University of Alabama at Birmingham, Birmingham, AL


Praise for previous editions

"...the most comprehensive review of genetic knowledge applied to the clinical practice of medical genetics [...] This is a book of magnificent quality. Very few books can be compared to this one. This is a must-have textbook with features that make it a unique source for medical geneticists" Luis F. Escobar, Shock, 2008;30-3:339 doi: 10.1097/01.SHK.0000286299.94327.fa

...to have brought together between the covers of three volumes a comprehensive summary of current thoughts and practices in clinical genetics as practised in the leading departments across the world by some of the greatest geneticists is a magnificent achievement. It is a body of experience from which we can all learn and to which I suspect most of us will continue to turn on a regular basis" Willie Reardon, J Med Genet 2002;39:454 doi:10.1136/jmg.39.6.454-a