Author: National Research Council Publisher: National Academies Press ISBN: 0309038405 Category : Science Languages : en Pages : 128
Book Description
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Author: Claudia Gonzaga-Jauregui Publisher: Academic Press ISBN: 0128204362 Category : Medical Languages : en Pages : 318
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: National Research Council Publisher: National Academies Press ISBN: 0309180716 Category : Science Languages : en Pages : 102
Book Description
The U.S. Department of Energy (DOE) promotes scientific and technological innovation to advance the national, economic, and energy security of the United States. Recognizing the potential of microorganisms to offer new energy alternatives and remediate environmental contamination, DOE initiated the Genomes to Life program, now called Genomics: GTL, in 2000. The program aims to develop a predictive understanding of microbial systems that can be used to engineer systems for bioenergy production and environmental remediation, and to understand carbon cycling and sequestration. This report provides an evaluation of the program and its infrastructure plan. Overall, the report finds that GTL's research has resulted in and promises to deliver many more scientific advancements that contribute to the achievement of DOE's goals. However, the DOE's current plan for building four independent facilities for protein production, molecular imaging, proteome analysis, and systems biology sequentially may not be the most cost-effective, efficient, and scientifically optimal way to provide this infrastructure. As an alternative, the report suggests constructing up to four institute-like facilities, each of which integrates the capabilities of all four of the originally planned facility types and focuses on one or two of DOE's mission goals. The alternative infrastructure plan could have an especially high ratio of scientific benefit to cost because the need for technology will be directly tied to the biology goals of the program.
Author: Paul L. Bartel Publisher: Oxford University Press, USA ISBN: 9780195109382 Category : Carrier proteins Languages : en Pages : 362
Book Description
This volume, part of the Advances in Molecular Biology series, presents work by pioneers in the field and is the first publication devoted solely to the yeast two-hybrid system. It includes detailed protocols, practical advice on troubleshooting, and suggestions for future development. In addition, it illustrates how to construct an activation domain hybrid library, how to identify mutations that disrupt an interaction, and how to use the system in mammalian cells. Many of the contributors have developed new applications and variations of the technique.
Author: Matt Ridley Publisher: Harper Collins ISBN: 0062253468 Category : Science Languages : en Pages : 370
Book Description
“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.
Author: Siddhartha Mukherjee Publisher: Simon and Schuster ISBN: 1476733538 Category : Medical Languages : en Pages : 624
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: Suzanne M. Mahon Publisher: ISBN: 9781635930504 Category : Languages : en Pages :
Book Description
"Collecting a family medical history is a regular component of the nursing assessment process that often includes information on familial cancer diagnoses, and patients may fear that they or their loved ones might be at increased risk for developing cancer because of hereditary factors. Although true inherited risk for developing cancer is much less common than acquired risk for developing cancer, approximately 10% of cancer diagnoses can be attributed to inherited risk. The identification of families exhibiting hereditary cancer syndromes enables individuals at risk to engage in increased surveillance and, in some cases, risk-reducing surgery and other preventive measures, which ultimately lead to decreasing the morbidity and mortality associated with a cancer diagnosis. The role of the nurse in helping patients to understand and manage hereditary cancer risk requires specialized knowledge of genetics and genomics concepts. Understanding Genomic and Hereditary Cancer Risk: A Handbook for Oncology Nurses provides background on basic genetic and genomic concepts, particularly those related to hereditary risk for developing cancer, to aid nurses in knowing when and why to refer patients. It also provides reliable information about how and why genetic and genomic testing can both aid in treatment decisions and also guide recommendations for cancer prevention and early detection. The nurse's role in genetic testing and counseling are discussed, as are questions and answers about types of testing, including direct-to-consumer genetic testing. Following genetic testing, most genetics professionals provide detailed information about recommendations for care, including recommendations for ongoing prevention and early detection. For patients who are found to have a harmful mutation, these recommendations can be extensive and are based on the personal and family medical history, as well as the specific variant. This book provides quick overviews of many of the more common hereditary variants as well as resources for more information. This handbook provides nurses with the essentials to understand genomic and hereditary cancer risk, to assist in facilitating interprofessional care with genetics and other oncology professionals, and to provide their patients with accurate and reassuring information"--
Author: Sukanta Mondal Publisher: Academic Press ISBN: 0128206128 Category : Science Languages : en Pages : 340
Book Description
Advances in Animal Genomics provides an outstanding collection of integrated strategies involving traditional and modern - omics (structural, functional, comparative and epigenomics) approaches and genomics-assisted breeding methods which animal biotechnologists can utilize to dissect and decode the molecular and gene regulatory networks involved in the complex quantitative yield and stress tolerance traits in livestock. Written by international experts on animal genomics, this book explores the recent advances in high-throughput, next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches which have enabled to produce huge genomic and transcriptomic resources globally on a genome-wide scale. This book is an important resource for researchers, students, educators and professionals in agriculture, veterinary and biotechnology sciences that enables them to solve problems regarding sustainable development with the help of current innovative biotechnologies. - Integrates basic and advanced concepts of animal biotechnology and presents future developments - Describes current high-throughput next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches for sustainable livestock production - Illustrates integrated strategies to dissect and decode the molecular and gene regulatory networks involved in complex quantitative yield and stress tolerance traits in livestock - Ensures readers will gain a strong grasp of biotechnology for sustainable livestock production with its well-illustrated discussion
Author: John Quackenbush Publisher: Charlesbridge ISBN: 1607343568 Category : Science Languages : en Pages : 189
Book Description
The DNA sequence that comprises the human genome--the genetic blueprint found in each of our cells--is undoubtedly the greatest code ever to be broken. Completed at the dawn of a new millennium, the feat electrified both the scientific community and the general public with its tantalizing promise of new and better treatments for countless diseases, including Alzheimer's, cancer, diabetes, and Parkinson's. Yet what is arguably the most important discovery of our time has also opened a Pandora's box of questions about who we are as humans and how the unique information stored in our genomes can and might be used, making it all the more important for everyone to understand the new science of genomics. In the CURIOSITY GUIDE TO THE HUMAN GENOME, Dr. John Quackenbush, a renowned scientist and professor, conducts a fascinating tour of the history and science behind the Human Genome Project and the technologies that are revolutionizing the practice of medicine today. With a clear and engaging narrative style, he demystifies the fundamental principles of genetics and molecular biology, including the astounding ways in which genes function, alone or together with other genes and the environment, to either sustain life or trigger disease. In addition, Dr. Quackenbush goes beyond medicine to examine how DNA-sequencing technology is changing how we think of ourselves as a species by providing new insights about our earliest ancestors and reconfirming our inextricable link to all life on earth. Finally, he explores the legal and ethical questions surrounding such controversial topics as stem cell research, prenatal testing, forensics, and cloning, making this volume of the Curiosity Guides series an indispensable resource for navigating our brave new genomic world.
Author: R.S. Verma Publisher: Elsevier ISBN: 0080526152 Category : Science Languages : en Pages : 281
Book Description
The laws of inheritance were considered quite superficial until 1903, when the chromosome theory of heredity was established by Sutton and Boveri. The discovery of the double helix and the genetic code led to our understanding of gene structure and function. For the past quarter of a century, remarkable progress has been made in the characterization of the human genome in order to search for coherent views of genes. The unit of inheritance termed factor or gene, once upon a time thought to be a trivial an imaginary entity, is now perceived clearly as the precise unit of inheritance that has continually deluged us with amazement by its complex identity and behaviour, sometimes bypassing the university of Mendel's law. The aim of the fifth volume, entitled Genes and Genomes, is to cover the topics ranging from the structure of DNA itself to the structure of the complete genome, along with everything in between, encompassing 12 chapters. These chapters relate much of the information accumulated on the role of DNA in the organization of genes and genomes per se. Several distinguished scientists, all pre-eminent authorities in each field to share their expertise. Obviously, since the historical report on the double helix configuration in 1953, voluminous reports on the meteoric advances in genetics have been accumulated, and to cover every account in a single volume format would be a Herculean task. Therefore, only a few topics are chosen, which are of great interest to molecular geneticists. This volume is intended for advanced graduate students who would wish to keep abreast with the most recent trends in genome biology.
Author: National Research Council
Author: Claudia Gonzaga-Jauregui
Author: National Research Council
Author: Paul L. Bartel
Author: Matt Ridley
Author: Siddhartha Mukherjee
Author: Suzanne M. Mahon
Author: Sukanta Mondal
Author: John Quackenbush
Author: R.S. Verma