Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Developmental Disorders
- 7th Edition - November 4, 2024
- Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 8 1 5 2 3 4 - 8
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 1 5 2 3 5 - 5
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinician… Read more
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Request a sales quoteEmery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated edition 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. 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 in medicine more broadly.
Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included.
- Revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to developmental disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods
- Provides genetic researchers, students and health professionals with an in-depth examination of the genetic basis of a range of developmental disorders, including clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among others
- Includes color images supporting identification, concept illustration, and method processing
- Features contributions by leading international researchers and practitioners of medical genetics
- Presents a robust companion website that offers further teaching tools and links to outside resources and articles
Students, physicians, and researchers in the field of medical genetics and personalized medicine, medical practitioners and researchers specializing in developmental disorders, molecular medicine, and cytogenetics, as well as genetic diagnostics and therapy in these and related disciplines, genetic counselors, practitioners in newborn medicine and developmental pediatrics
1. Genetics of Developmental Disorders (overview)
2. Human Developmental Genetics
3. Abnormal body size and proportion
4. Clefting, Dental, and Craniofacial Syndromes
5. Craniosynostosis
6. Dental Disorders
7. Genetics of Sexual Development
8. Rasopathies
9. A Clinical Approach to the Dysmorphic Child
10. Autosomal Trisomies
11. Sex-Chromosome Abnormalities
12. Deletions and Other Structural Abnormalities of the Autosomes
2. Human Developmental Genetics
3. Abnormal body size and proportion
4. Clefting, Dental, and Craniofacial Syndromes
5. Craniosynostosis
6. Dental Disorders
7. Genetics of Sexual Development
8. Rasopathies
9. A Clinical Approach to the Dysmorphic Child
10. Autosomal Trisomies
11. Sex-Chromosome Abnormalities
12. Deletions and Other Structural Abnormalities of the Autosomes
- No. of pages: 400
- Language: English
- Edition: 7
- Published: November 4, 2024
- Imprint: Academic Press
- Hardback ISBN: 9780128152348
RP
Reed E. Pyeritz
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.
Affiliations and expertise
William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USABK
Bruce R. Korf
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.
Affiliations and expertise
Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USAWG
Wayne W. Grody
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).
Affiliations and expertise
Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA