Genomics of Rare Diseases PDF Download

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: Kostas Kampourakis
Publisher: Cambridge University Press
ISBN: 1108858635
Category : Science
Languages : en
Pages : 241

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Book Description
What are genes? What do genes do? These questions are not simple and straightforward to answer; at the same time, simplistic answers are quite prevalent and are taken for granted. This book aims to explain the origin of the gene concept, its various meanings both within and outside science, as well as to debunk the intuitive view of the existence of 'genes for' characteristics and disease. Drawing on contemporary research in genetics and genomics, as well as on ideas from history of science, philosophy of science, psychology and science education, it explains what genes are and what they can and cannot do. By presenting complex concepts and research in a comprehensible and rigorous manner, it examines the potential impact of research in genetics and genomics and how important genes actually are for our lives. Understanding Genes is an accessible and engaging introduction to genes for any interested reader.

Author: Nessa Carey
Publisher: Columbia University Press
ISBN: 0231530714
Category : Science
Languages : en
Pages : 353

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Book Description
Epigenetics can potentially revolutionize our understanding of the structure and behavior of biological life on Earth. It explains why mapping an organism's genetic code is not enough to determine how it develops or acts and shows how nurture combines with nature to engineer biological diversity. Surveying the twenty-year history of the field while also highlighting its latest findings and innovations, this volume provides a readily understandable introduction to the foundations of epigenetics. Nessa Carey, a leading epigenetics researcher, connects the field's arguments to such diverse phenomena as how ants and queen bees control their colonies; why tortoiseshell cats are always female; why some plants need cold weather before they can flower; and how our bodies age and develop disease. Reaching beyond biology, epigenetics now informs work on drug addiction, the long-term effects of famine, and the physical and psychological consequences of childhood trauma. Carey concludes with a discussion of the future directions for this research and its ability to improve human health and well-being.

Author: Siddhartha Mukherjee
Publisher: Simon and Schuster
ISBN: 1476733538
Category : Medical
Languages : en
Pages : 624

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Book Description
The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

Author: Beth Skwarecki
Publisher: Simon and Schuster
ISBN: 1507207654
Category : Science
Languages : en
Pages : 256

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Book Description
A clear and straightforward explanation of genetics in this new edition of the popular 101 series. Our genetic makeup determines so much about who we are, and what we pass on to our children—from eye color, to height, to health, and even our longevity. Genetics 101 breaks down the science of how genes are inherited and passed from parents to offspring, what DNA is and how it works, how your DNA affects your health, and how you can use your personal genomics to find out more about who you are and where you come from. Whether you’re looking for a better scientific understanding of genetics, or looking into your own DNA, Genetics 101 is your go-to source to discover more about both yourself and your ancestry.

Author: National Institutes National Institutes of Health
Publisher: Createspace Independent Publishing Platform
ISBN: 9781503088733
Category : Gene therapy
Languages : en
Pages : 0

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Book Description
Complete handbook on cells and DNA including genes and chromosomes. Also includes indepth look at how genes work, mutations and health, inheriting genetic conditions, genetic consultation, genetic testing, gene therapy, the human genome project and complete genomic research.

Author: Torbjörn Säll
Publisher: John Wiley & Sons
ISBN: 1119124077
Category : Science
Languages : en
Pages : 281

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Book Description
An inspiring introduction to a vital scientific field. The reader is taken through ten mathematical derivations that lead to important results, explaining in a hands-on manner the key concepts and methods of theoretical population genetics. The derivations are carefully worked out and easy to follow. Particular attention is given to the underlying assumptions and the mathematics used. The results are discussed and broadened out with relevant current implications. All topics feature questions with helpful answers. The book is intended for the reader who already knows some population genetics but requires a more comprehensive understanding. It is particularly suited to those who analyse genetic data and wish to better grasp what their results actually mean. It will also be helpful for those who wish to understand how population genetics contributes to the explanation of evolution. Or as the writers claim: If one wants to understand life in all its improbable and amazing richness one must start by understanding population genetics.

Author: B.A. Ponder
Publisher: Springer Science & Business Media
ISBN: 9401106770
Category : Medical
Languages : en
Pages : 222

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Book Description
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.

Author: Katie McKissick
Publisher: Simon and Schuster
ISBN: 1440567646
Category : Reference
Languages : en
Pages : 256

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Book Description
Get the low-down on genetics with easy-to-understand terms and clear explanations. From interpreting dominant and recessive genes to learning about mutations, this book shows the different factors that can determine a person's DNA.

Author: Dorian J. Pritchard
Publisher: John Wiley & Sons
ISBN: 0470656549
Category : Medical
Languages : en
Pages : 243

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Book Description
Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.