Bookedited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
Summary: "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"--Publisher's description.
Contents:
History of medical genetics
Medicine in a genetic context
Precision medicine
Nature and frequency of genetic disease
Genome and gene structure
Genome structure
Epigenetics
Human gene mutation in inherited disease: molecular mechanisms and clinical consequences
Genes in families
Analysis of genetic linkage
Chromosomal basis of inheritance
Mitochondrial medicine: the mitochondrial biology and genetics of metabolic and degenerative diseases, cancer, and aging
Mitochondrial biology - split of above chapter
Mitochondrial disorders - split of above chapter
Multifactorial inheritance and complex diseases
Immunologic disorders: autoimmunity: genetics and immunologic mechanisms
Population genetics
Pathogenetics of disease
Twins and twinning
The biological basis of aging: implications for medical genetics
Pharmacogenetics and pharmacogenomics.