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Elsevier

Books in Human genetics

  • Our Genes, Our Choices

    How Genotype and Gene Interactions Affect Behavior
    • 1st Edition
    • David Goldman
    • English
    Our Genes, Our Choices: How Genotype and Gene Interactions Affect Behavior — First Prize winner of the 2013 BMA Medical Book Award for Basic and Clinical Sciences — explains how the complexity of human behavior, including concepts of free will, derives from a relatively small number of genes, which direct neurodevelopmental sequence. Are people free to make choices, or do genes determine behavior? Paradoxically, the answer to both questions is "yes," because of neurogenetic individuality, a new theory with profound implications. Author David Goldman uses judicial, political, medical, and ethical examples to illustrate that this lifelong process is guided by individual genotype, molecular and physiologic principles, as well as by randomness and environmental exposures, a combination of factors that we choose and do not choose. Written in an authoritative yet accessible style, the book includes practical descriptions of the function of DNA, discusses the scientific and historical bases of genethics, and introduces topics of epigenetics and the predictive power of behavioral genetics.

  • Dento/Oro/Craniofacial Anomalies and Genetics

    • 1st Edition
    • Agnes Bloch-Zupan + 2 more
    • English
    Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as giving insight into recent development for each specific condition. The clarity and format of this book make it an ideal support guide both in the clinic and while conducting research.

  • Analysis of Complex Disease Association Studies

    A Practical Guide
    • 1st Edition
    • Eleftheria Zeggini + 1 more
    • English
    According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available.

  • Molecular Diagnostics

    • 2nd Edition
    • George P. Patrinos + 1 more
    • English
    The 2e of Molecular Diagnostics, the only book dealing with diagnosis on a molecular level, discusses current molecular biological techniques used to identify the underlying molecular defects in inherited disease. The book delves further into the principle and brief description of the technique, followed by examples from the authors' own expertise. Contributors to the 2e are well-known experts in their field, and derive from a variety of disciplines, to ensure breadth and depth of coverage. Molecular Diagnostics, 2e , is a needed resource for graduate students, researchers, physicians and practicing scientists in molecular genetics and professionals from similar backgrounds working in diagnostic laboratories in academia or industry, as well as academic institutions and hospital libraries.

  • Genomic and Personalized Medicine

    V1-2
    • 1st Edition
    • Geoffrey S. Ginsburg + 1 more
    • English
    This two-volume set — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine.Volume One Includes:Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care.Volume Two Includes:Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine.

  • Perspectives on Properties of the Human Genome Project

    • 1st Edition
    • Volume 50
    • F. Scott Kieff
    • English
    The groundbreaking work of modern genetics that culminated in the Human Genome Project has blazed new pathways in both science and law. As the assertion of property rights generally, and patents in particular, has become increasingly common surrounding the new products and processes of modern biotechnology, the transactions that must occur for downstream research and development to occur have shifted in important ways, in both academic and business settings. Perspectives on Properties of the Human Genome Project addresses the problems raised in this complex area under different regimes of laws and norms to offer hope and help as we wrestle to ensure optimal use of such essential innovations. This unique collection of authors, views, and topics is essential reading for academics, policy-makers, and practitioners in medicine, biology, sociology, management, ethics, law, and economics, and anyone else interested in gaining perspective on the broad interface between biotechnology and property.

  • Tay-Sachs Disease

    • 1st Edition
    • Volume 44
    • English
    Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs.A test to determine whether an infant is carrying the Tay-Sachs disease was introduced in 1969. However, work continues to be done to help find a cure. Because there is no cure for this deadly disease, genetic research is essential. Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.

  • Genetic Dissection of Complex Traits

    • 1st Edition
    • Volume 42
    • English
    Genetic Dissection of Complex Traits will present the full range of methodologies that are essential for understanding the basis of human genetic disorders, the origin of such diseases, and theories on how to determine one's genetic predisposition to certain genetic diseases.

  • HLA in Health and Disease

    • 2nd Edition
    • Robert Lechler + 1 more
    • English
    This comprehensive and definitive work succeeds and expands on the highly successful HLA and Disease published in 1994. This new edition has been updated, redesigned and reorganised into three sections making it an invaluable reference. The introductory section summarises current knowledge on the structure, function, genetics and evolution of the HLA system. It clarifies its complex and ever changing nomenclature and discusses the mechanisms underlying disease associations with HLA alleles. The second section deals with the importance of HLA in the context of different clinical specialities. Individual chapters describe the association between HLA polymorphism and each disease. The final section features chapters on current laboratory practice in histocompatibility and tissue typing. HLA in Health and Disease is essential reading for basic and clinical researchers working in immunology and immunogenetics, transplantation medicine and autoimmunity. It will also be of interest to anyone in the fields of rheumatology, diabetology, nephrology, allergy, dermatology, neurology, endocrinology, cancer biology, respiratory medicine, haematology, molecular biology and biochemistry.

  • Human Gene Evolution

    • 1st Edition
    • English
    Presents the principles of human gene evolution in a concise and easy to understand fashion. Uses examples of how evolutionary processes have molded present day genes, drawn from the evolution of humans and other primates, as well as from more primitive organisms. With increasing attention in this expanding area, this review forms a timely publication of our current knowledge of this important field.