Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition: Clinical Principles and Applications 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. It is an ideal reference for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive resource emphasizes theory and research fundamentals related to the applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, NGS and therapeutics.
Users will find an invaluable guide that bridges the gap between high-level molecular genetics and practical applications.
- 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 the genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, and more
- Includes color images that support the identification, concept illustration and method processing
- Features contributions by leading international researchers and practitioners of medical genetics
- A robust companion website offers lecture slides, image banks, and links to outside resources and articles
1. Genetic Evaluation for Common Diseases of Adulthood 3. Cytogenetic Analysis 4. Diagnostic Molecular Genetics 5. Heterozygote Testing and Carrier Screening 6. Circadian Biology 7. Genetics of intelligence 8. Therapies for Lysosomal Storage Diseases 9. Gene Product Replacement 10. Small Molecule Therapeutics for Genetic Disorders 11. Clinical Trials and Drug Discovery 12. Genetic health records 13. The Genetics of Personality 14. Ethical and Social Issues in Clinical Genetics 15. International Genomic Medicine Implementation 16. Benefits of Genetic Services for Public Health 17. Legal Issues in Genetic Medicine
Section 2 18. Genetics of Female Infertility in Humans 19. Genetics of Male Infertility 20. Genetics of Sexual Development 21. A Clinical Approach to the Dysmorphic Child 22. Rasopathies 23. Clinical Teratology 24. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism 25. Abnormal Body Size and Proportion 26. The Microbiome 21. Transplantation Genetics
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.
Korf, Bruce R.
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.
Grody, Wayne W.
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).