Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications

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.

Key Features

    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

Readership

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

Table of Contents

1. A Clinical Approach to the Dysmorphic Child
Kenneth L. Jones and Marilyn C. Jones
2. Clinical Teratology
Sura Alwan and Jan M. Friedman
3. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism
John B. Moeschler
4. Abnormal Body Size and Proportion
Deepika D’Cunha Burkardt and John M. Graham Jr
5. Cytogenetic Analysis
Nancy B. Spinner and Malcolm A. Ferguson-Smith
6. Diagnostic Molecular Genetics
Wayne W. Grody and Joshua L. Deignan
7. Therapies for Lysosomal Storage Diseases
Robert J. Desnick, Kenneth H. Astrin and Edward H. Schuchman
8. Transplantation Genetics
Daniel Graziano and Massimo Trucco
9. Genetic Evaluation for Common, Chronic Disorders of Adulthood 265
Maren T. Scheuner and Shweta U. Dhar
10. Carrier Screening and Heterozygote Testing
Matthew J. McGinniss and Molly A. McGinniss
11. Circadian Rhythms and Disease
Shirley L. Zhang and Amita Sehgal
12. The Genomic Health Record: Current Status and Vision for the Future
Marc S. Williams
13. Ethical and Social Issues in Clinical Genetics
Rachel Irving and Angus John Clarke
14. Genetics and Genomics in Public Health
Debra Lochner Doyle and Muin J. Khoury
15. Implementation of Genomic Medicine: An International Perspective
Angeliki Panagiotara, Efthymios Skoufas, Constantina Chalikiopoulou, Evangelia-Eirini Tsermpini, Marina Bartsakoulia, Theodora Katsila and George P. Patrinos

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.

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).