Emery and Rimoin's Principles and Practice of Medical Genetics

Edited by

  • David Rimoin, Medical Genetics Institute, Los Angeles, CA, USA
  • Reed Pyeritz, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
  • Bruce Korf, University of Alabama at Birmingham, Birmingham, AL

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.

View full description


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.


Book information

  • Published: March 2013
  • ISBN: 978-0-12-383835-3


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

Table of Contents

 History of Medical Genetics
 Medicine in a Genetic Context
 Nature and Frequency of Genetic Disease
 Genomics and Proteomics
 Genome Structure and Gene Expression
 Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
 Mendelian Inheritance
 Analysis of Genetic Linkage
 Chromosomal Basis of Inheritance
 Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
 Multifactoral Inheritance and Complex Traits
 Population Genetics
 Pathogenetics of Disease
 Human Developmental Genetics
 Twins and Twinning
 The Molecular Biology of Cancer
 The Biologic Basis of Aging: Implications for Medical Genetics
 Pharmacogenetics and Pharmacogenomics
 Genetic Risk Assessment for Common Disease
 Genetic Counseling and Clinical Risk Assessment
 Cytogenetic Analysis
 Diagnostic Molecular Genetics
 Heterozygote Testing and Carrier Screening
 Prenatal Screening for Neural Tube Defects and Aneuploidy
 Techniques for Prenatal Diagnosis
 Neonatal Screening
 Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
 Gene Therapy
 Ethical and Social Issues in Clinical Genetics
 Legal Issues in Genetics in Medicine
 The Genetic Basis of Female Infertility
 Male Infertility
 Fetal Loss
 Genetic Disorders of Prematurity
 A Clinical Approach to the Dysmorphic Child
 Clinical Teratology
 Abnormal Mental Development
 Abnormal Body Size and Proportion
 Susceptibility and Response to Infection
 Transplantation Genetics
 Down Syndrome and other Autosomal Trisomies
 Sex Chromosome Abnormalities
 Deletions and Other Structural Abnormalities of the Autosomes
 Congenital Heart Disease
 Pulmonary Arterial Hypertension
 Hereditary Hemorrhagic Telangiectasia
 Cutaneous Hamartoneoplastic Disorders
 Disorders of the Venous System
 Capillary Malformation / Arteriovenous Malformation
 Hereditary Disorders of the Lymphatic System
 The Genetics of Cardiac Electrophysiology in Humans
 The Genetics of Blood Pressure Regulation in Humans
 Common Genetic Determinants of Coagulation and Fibronolysis
Genetics of Atherosclerotic Cardiovascular Disease
 Cystic Fibrosis
 Hereditary Pulmonary Emphysema
 Interstitial and Restrictive Pulmonary Disorders
 Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
 Cystic Diseases of the Kidney
 Nephrotic Disorders
 Renal Tubular Disorders
 Cancer of the Kidney and Urogenital Tract
 Gastrointestinal Tract and Hepatobiliary Duct System
 Inflammatory Bowel Disease
 Bile Pigment Metabolism and its Disorders
 Cancer of the Colon and Gastrointestinal Tract
 Hemoglobinopathies and Thalassemias
 Other Hereditary Red Blood Cell Disorders
 Hemophilias and Other Disorders of Hemostasis
 Rhesus and Other Fetomaternal Incompatibilities
 Leukemias, Lymphomas and Other Related Disorders
 Autoimmunity: Genetics and Immunological Mechanisms
 Systemic Lupus Erythematosus
 Rheumatoid Disease and Other Inflammatory Arthropathies
 Amyloidosis and Other Protein Deposition Diseases
 Disorders of Lymphocyte Development and Function
 Complement Defects
 Disorders of Leukocyte Function
 Genetic Disorders of the Pituitary Gland
 Thyroid Disorders
 Parathyroid Disorders
 Diabetes Mellitus
 Genetic Disorders of the Adrenal Gland
 Disorders of the Gonads, Genital Tract and Genitalia
 Cancer of the Breast and Female Reproductive Tract
 Disorders of the Body Mass
 Genetic Lipodystrophies
 Amino Acid Metabolism
 Disorders of Carbohydrate Metabolism
 Congenital disorders of protein glycosylation
 Purine and Pyrimidine Metabolism
 Lipoprotein and Lipid Metabolism
 Organic Acidemias and Disorders of Fatty Acid Oxidation
 Vitamin D Metabolism or Action
 Inherited Porphyrias
 Copper Metabolism
 Iron Metabolism and Related Disorders
 Disorders of DNA Repair and Metabolism
 Oligosaccharridoses and Allied Disorders
 Gangliosidoses and Related Lipid Storage Diseases
 Peroxisomal Disorders
 Genetics of Personality
 Fragile X Syndrome and Other Causes of X-linked Mental Handicap
 Dyslexia and Other Specific Learning Disorders
 Attention Deficit Hyperactivity Disorder and Other Behavioral Disorders
 Autism & Autism Spectrum
 Alzheimer Disease and Other Dementias
 Shizophrenia and Affective Disorders
 Addictive Disorders
 Neural Tube Defects
 Genetic Disorders of Cerebral Cortical Development
 The Epilepsies
 Basal Ganglia Disorders
 The Hereditary Ataxias
 Hereditary Spastic Paraplegia
 Autonomic and Sensory Disorders
 The Phakomatoses
 Multiple Sclerosis and Other Demyelinating Disorders
 Cerebrovascular Disorders
 Primary Tumors of the Nervous System
 The muscular dystrophies
 Hereditary Motor and Sensory Neuropathies
 Congenital (Structural) Myopathies
 Spinal Muscular Atrophies
 Nondystrophic Myotonias and Periodic Paralyses
 Myotonic Dystrophy
 Hereditary and Autoimmune Myasthenias
 Motor Neurone Disease
 Color Vision Defects
 Optic Atrophy
 Defects of the Cornea
 Anomalies of the Lens
 Hereditary Retinal and Choroidal Degenerations
 Disorders of the Hair
 Hereditary hearing impairment
 Clefting, Dental, and Craniofacial Syndromes
 Abnormalities of Pigmentation
 Ichthyosiform Dermatoses
 Epidermolysis Bullosa
 Ectodermal Dysplasias
 Psoriasis and Related Disorders
 Skin Cancer
 Marfan Syndrome and Other Disorders of Fibrillin
 Ehlers-Danlos Syndrome
 Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
 Osteogenesis Imperfecta (and other disorders of bone matrix)
 Disorders of Bone Density, Volume and Mineralization
 Abnormalities of Bone Structure
 The Dysostoses
 Arthrogryposes (Multiple Congenital Contractures)
 Common Skeletal Deformities
 Hereditary Noninflammatory Arthropathies