Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Foundations

 

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics.

With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Key Features

    Introduces genetic researchers, students, and health professionals to basic theories, concepts, research areas, and the history of medical genetics, offering a contextual framework for integrating genetics into medical practice
    Completely revised and up-to-date, this new edition highlights traditional approaches and new developments in the field of medical genetics, including cancer genetics, genomic technologies, genome and exome sequencing, prenatal diagnosis, public health genetics, genetic counseling, and single-cell analysis for diagnosis
    Includes color images supporting identification, concept illustration, and method processing
    Features contributions by leading international researchers and practitioners of medical genetics

Readership

Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners across medical disciplines as well as systems biology, molecular medicine, and genetic epidemiology; genetic counselors; genetic researchers in industry and pharma

Table of Contents

1. Medicine in a Genetic and Genomic Context
Reed E. Pyeritz

2. Foundations and Application of Precision Medicine
Geoffrey S. Ginsburg and Susanne B. Haga

3. Nature and Frequency of Genetic Disease
Bruce R. Korf, Reed E. Pyeritz and Wayne W. Grody

4. Genome and Gene Structure
Madhuri R. Hegde and Michael R. Crowley

5. Epigenetics
Rosanna Weksberg, Darci T. Butcher, Cheryl Cytrynbaum, Michelle T. Siu, Sanaa Choufani and Benjamin Tycko

6. Human Genomic Variants and Inherited Disease: Molecular Mechanisms and Clinical Consequences
Stylianos E. Antonarakis and David N. Cooper

7. Genes in Families
Jackie Cook

8. Analysis of Genetic Linkage
Rita M. Cantor

9. Chromosomal Basis of Inheritance
Fady M. Mikhail

10 Mitochondrial Biology and Medicine
Douglas C. Wallace, Marie T. Lott and Vincent Procaccio

11. Multifactorial Inheritance and Complex Diseases
Allison Fialkowski, T. Mark Beasley and Hemant K. Tiwari

12. Population Genetics
H. Richard Johnston, Bronya J.B. Keats and Stephanie L. Sherman

13. Pathogenetics of Disease
Reed E. Pyeritz

14. Twins and Twinning
Mark P. Umstad, Lucas Calais-Ferreira, Katrina J. Scurrah, Judith G. Hall and Jeffrey M. Craig

15. The Biological Basis of Aging: Implications for Medical Genetics
Junko Oshima, Fuki M. Hisama and George M. Martin

16. Pharmacogenomics
Daniel W. Nebert and Ge Zhang

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.