Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications
412Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications
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Overview
- 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
Product Details
ISBN-13: | 9780128126844 |
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Publisher: | Elsevier Science |
Publication date: | 11/20/2018 |
Sold by: | Barnes & Noble |
Format: | eBook |
Pages: | 412 |
File size: | 72 MB |
Note: | This product may take a few minutes to download. |
About the Author
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.
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).
Table of Contents
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
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Thoroughly addresses general principles of genetic counseling, genetic diagnostics, treatments, drug discovery, ethical and legal aspects, and the application of genomic technologies