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Publisher: ScholarlyEditions
ISBN: 1490106936
Category : Medical
Languages : en
Pages : 200
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Book Description
Issues in Genetic Diseases and Disorders / 2013 Edition is a ScholarlyEditions™ book that delivers timely, authoritative, and comprehensive information about Public Health Genomics. The editors have built Issues in Genetic Diseases and Disorders: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Public Health Genomics in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Issues in Genetic Diseases and Disorders: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
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Book Description
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians
Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Science
Languages : en
Pages : 880
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Book Description
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Author: George A. Padgett
Publisher: Turner Publishing Company
ISBN: 0470369922
Category : Pets
Languages : en
Pages : 266
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Book Description
If you breed dogs for any reason, you must own this book. Genetic diseases are among the most serious hazards on the landscape of modern dog breeding and one of the most vexing challenges facing today's dog breeders. Is it appropriate to open the gene pool to unwanted conditions in the pursuit of physical perfection, or must breeding to the Standard take a back seat to producing healthy animals? In Control of Canine Genetic Diseases, renowned authority George A. Padgett, DVM, provides an expert road map to help dog breeders everywhere avoid the pitfalls they are almost destined to encounter. For anyone whose goal is to produce healthy, functional and beautiful dogs, this is the book they need. Dr. Padgett provides clear explanations of modes of inheritance, how to conduct and analyze test matings and how to lower the chances of producing affected animals. Numerous tables, diagrams and graphs further enhance the text to facilitate the breeder's understanding. A Howell Dog Book of Distinction
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338
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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239
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Book Description
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678
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Book Description
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author: Sam Goldstein
Publisher: Guilford Press
ISBN: 9781609180010
Category : Psychology
Languages : en
Pages : 588
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Book Description
Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.
Author: P. Michael Conn
Publisher: Academic Press
ISBN: 0124159125
Category : Science
Languages : en
Pages : 1109
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Book Description
Animal Models for the Study of Human Disease identifies important animal models and assesses the advantages and disadvantages of each model for the study of human disease. The first section addresses how to locate resources, animal alternatives, animal ethics and related issues, much needed information for researchers across the biological sciences and biomedicine.The next sections of the work offers models for disease-oriented topics, including cardiac and pulmonary diseases, aging, infectious diseases, obesity, diabetes, neurological diseases, joint diseases, visual disorders, cancer, hypertension, genetic diseases, and diseases of abuse. - Organized by disease orientation for ease of searchability - Provides information on locating resources, animal alternatives and animal ethics - Covers a broad range of animal models used in research for human disease
Author: Muntaser E. Ibrahim
Publisher: Cambridge University Press
ISBN: 1107072026
Category : History
Languages : en
Pages : 351
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Book Description
A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Author: Nicholas Wright Gillham
Publisher: FT Press
ISBN: 0132623242
Category : Medical
Languages : en
Pages : 353
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Book Description
This very readable overview of the rise and transformations of medical genetics and of the eugenic impulses that have been inspired by the emerging understanding of the genetic basis of many diseases and disabilities is based on a popular nonmajors course, "Social Implications of Genetics," that Gillham gave for many years at Duke University. The book is suitable for use as a text in similar overview courses about genes and social issues or genes and disease. It gives a good overview of the developments and status of this field for a wide range of biomedical researchers, physicians, and students, especially those interested in the prospects for the new, genetics-based personalized medicine.
