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Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine by Nicholas W. Gillham Pdf
This readable overview covers the rise of medical genetics through the past century, and the eugenic impulses it has inspired. Nicholas Gillham reviews the linkages between genes and disease; ethnic groups & rsquo; differential susceptibility to genetic traits and disorders; personalized medicine; and crucial social and ethical issues arising from the field & rsquo;s progress.
Medical genetics 1 by John Kaisermann,Milos Pawlowski,Yavor Mendel Pdf
Medical genetics encompasses many different areas, including the clinical practice of doctors, genetic counselors and nutritionists, clinical diagnostic laboratory activities and research on the causes and inheritance of genetic disorders. Examples of conditions that are within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens and prenatal diagnosis. Medical genetics is becoming increasingly relevant for many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurological, endocrine, cardiovascular, pulmonary, ophthalmological, renal, psychiatric and dermatological diseases. Summary of the contents of this book: Genetic disorders: Classification Chromosomal disorders Mitochondrial diseases: Mitochondrial genetics Proteopathy The human genome and the chromosomal base of inheritance Cancer cytogenetics The human genome and its chromosomes DNA structure: a brief summary Organization of human chromosomes Cell division The human karyotype Human gametogenesis and fertilization Importance and medical significance of Mitosis and Meiosis Structure and function of the human genome Genome Keys
Down Syndrome: From Understanding the Neurobiology to Therapy by Anonim Pdf
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. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist
Genetic Disorders and the Fetus by Aubrey Milunsky Pdf
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
The Genetics of Cancer by B.A. Ponder,M.J. Waring Pdf
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
“Ridley leaps from chromosome to chromosome in a handy summation of our ever increasing understanding of the roles that genes play in disease, behavior, sexual differences, and even intelligence. . . . . He addresses not only the ethical quandaries faced by contemporary scientists but the reductionist danger in equating inheritability with inevitability.” — The New Yorker The genome's been mapped. But what does it mean? Matt Ridley’s Genome is the book that explains it all: what it is, how it works, and what it portends for the future Arguably the most significant scientific discovery of the new century, the mapping of the twenty-three pairs of chromosomes that make up the human genome raises almost as many questions as it answers. Questions that will profoundly impact the way we think about disease, about longevity, and about free will. Questions that will affect the rest of your life. Genome offers extraordinary insight into the ramifications of this incredible breakthrough. By picking one newly discovered gene from each pair of chromosomes and telling its story, Matt Ridley recounts the history of our species and its ancestors from the dawn of life to the brink of future medicine. From Huntington's disease to cancer, from the applications of gene therapy to the horrors of eugenics, Ridley probes the scientific, philosophical, and moral issues arising as a result of the mapping of the genome. It will help you understand what this scientific milestone means for you, for your children, and for humankind.
A Handbook of Clinical Genetics by J. S. Fitzsimmons Pdf
A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.
Chromosome Abnormalities and Genetic Counseling by R. J. McKinlay Gardner,Grant R. Sutherland Pdf
Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
Chromosome Abnormalities and Genetic Counseling by R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer Pdf
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health Publisher : National Academies Press Page : 385 pages File Size : 44,8 Mb Release : 2006-12-07 Category : Social Science ISBN : 9780309101967
Genes, Behavior, and the Social Environment by Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health Pdf
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Human Interphase Chromosomes by Ivan Iourov,Svetlana Vorsanova,Yuri Yurov Pdf
This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.
Encyclopedia of Human Genetics and Disease [2 volumes] by Evelyn B. Kelly Pdf
This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science. Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.
A Guardian Book of the Week Longlisted for the PEN / E. O. Wilson Literary Science Writing Award An award-winning physician and scientist makes the game-changing case that genetic females are stronger than males at every stage of life Here are some facts: Women live longer than men. They have stronger immune systems. They're better at fighting cancer and surviving famine, and even see the world in a wider variety of colors. They are simply stronger than men at every stage of life. Why is this? And why are we taught the opposite? To find out, Dr. Sharon Moalem drew on his own medical experiences - treating premature babies in the neonatal intensive care unit; recruiting the elderly for neurogenetic studies; tending to HIV-positive orphans in Thailand - and tried to understand why in every instance men were consistently less likely to thrive. The answer, he discovered, lies in our genetics: two X chromosomes offer a powerful survival advantage. With clear, captivating prose that weaves together eye-opening research, case studies, diverse examples ranging from the behavior of honeybees to American pioneers, as well as experiences from his personal life and his own patients, Moalem explains why genetic females triumph over males when it comes to resiliency, intellect, stamina, immunity and much more. He also calls for a reconsideration of our male-centric, one-size-fits-all view of medical studies and even how we prescribe medications - a view that still sees women through the lens of men. Revolutionary and yet utterly convincing, The Better Half will make you see humanity and the survival of our species anew.
