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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.
- 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
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
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
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
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
Daniel W. Nebert and Ge Zhang
- No. of pages:
- © Academic Press 2019
- 29th November 2018
- Academic Press
- Hardcover ISBN:
- eBook ISBN:
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.
William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA
Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.
Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).
Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA