Human genetics print books and ebooks | Elsevier

Human Genes and Genomes

1st Edition
May 18, 2012
Leon E. Rosenberg + 1 more
English
Hardback
9 7 8 0 1 2 3 8 5 2 1 2 0
Paperback
9 7 8 0 1 2 8 1 0 0 9 3 6
eBook
9 7 8 0 1 2 3 8 5 2 1 3 7

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines.

Down Syndrome: From Understanding the Neurobiology to Therapy

1st Edition
Volume 197
May 10, 2012
English
Hardback
9 7 8 0 4 4 4 5 4 2 9 9 1
Paperback
9 7 8 0 4 4 4 6 0 2 3 8 1
eBook
9 7 8 0 4 4 4 5 4 3 0 0 4

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures.

Genomic and Personalized Medicine

2nd Edition
October 30, 2012
Geoffrey S. Ginsburg + 1 more
English
eBook
9 7 8 0 1 2 3 8 2 2 2 8 4

Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003.

Molecular Medicine

4th Edition
August 17, 2012
R.J. Trent
English
Paperback
9 7 8 0 1 2 8 1 0 0 7 2 1
Hardback
9 7 8 0 1 2 3 8 1 4 5 1 7
eBook
9 7 8 0 1 2 3 8 1 4 5 2 4

Molecular Medicine is the application of genetic or DNA-based knowledge to the modern practice of medicine. Molecular Medicine, 4e, provides contemporary insights into how the genetic revolution is influencing medical thinking and practice. The new edition includes recent changes in personalized medicine, new growth in omics and direct-to-consumer DNA testing, while focusing on advances in the Human Genome project and implications of the advances in clinical medicine. Graduate students, researchers, clinicians and allied health professionals will appreciate the background history and clinical application of up-to-date molecular advances.

Our Genes, Our Choices

1st Edition
May 1, 2012
David Goldman
English
Paperback
9 7 8 0 1 2 3 9 6 9 5 2 1
eBook
9 7 8 0 1 2 3 9 7 2 0 1 9

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.

Analysis of Complex Disease Association Studies

1st Edition
October 20, 2010
Eleftheria Zeggini + 1 more
English
Hardback
9 7 8 0 1 2 3 7 5 1 4 2 3
eBook
9 7 8 0 1 2 3 7 5 1 4 3 0

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.

The Human Genome

3rd Edition
November 29, 2010
Julia E. Richards + 1 more
English
Paperback
9 7 8 0 1 2 3 3 3 4 4 5 9
eBook
9 7 8 0 0 8 0 9 1 8 6 5 5

Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information.

Molecular Diagnostics

2nd Edition
August 21, 2009
George P. Patrinos + 1 more
English
Hardback
9 7 8 0 1 2 3 7 4 5 3 7 8
eBook
9 7 8 0 0 8 0 9 2 3 1 8 5

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

1st Edition
October 22, 2008
Geoffrey S. Ginsburg + 1 more
English
eBook
9 7 8 0 0 8 0 9 1 9 0 3 4

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.

Tay-Sachs Disease

1st Edition
Volume 44
October 1, 2001
English
Hardback
9 7 8 0 1 2 0 1 7 6 4 4 1
eBook
9 7 8 0 0 8 0 4 9 0 3 0 4

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.

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health

Books in Human genetics

Human Genes and Genomes

Down Syndrome: From Understanding the Neurobiology to Therapy

Genomic and Personalized Medicine

Molecular Medicine

Our Genes, Our Choices

Analysis of Complex Disease Association Studies

The Human Genome

Molecular Diagnostics

Genomic and Personalized Medicine

Tay-Sachs Disease