Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (eBook, ePUB)

Clinical Principles and Applications
Redaktion: Pyeritz, Reed E.; Grody, Wayne W.; Korf, Bruce R.

• Format: ePub

Produktbeschreibung

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.

Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.

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

• Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice
• Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine
• Includes color images supporting identification, concept illustration, and method processing
• Features contributions by leading international researchers and practitioners of medical genetics

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Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 412
• Erscheinungstermin: 20. November 2018
• Englisch
• ISBN-13: 9780128126844
• Artikelnr.: 54600529

Autorenporträt

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 H

ealthcare 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.

Inhaltsangabe

1. A Clinical Approach to the Dysmorphic Child 2. Clinical Teratology 3. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism 4. Abnormal Body Size and Proportion 5. Cytogenetic Analysis 6. Diagnostic Molecular Genetics 7. Therapies for Lysosomal Storage Diseases 8. Transplantation Genetics 9. Genetic Evaluation for Common, Chronic Disorders of Adulthood 265 10. Carrier Screening and Heterozygote Testing 11. Circadian Rhythms and Disease 12. The Genomic Health Record: Current Status and Vision for the Future 13. Ethical and Social Issues in Clinical Genetics 14. Genetics and Genomics in Public Health 15. Implementation of Genomic Medicine: An International Perspective