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| Author | : Alan Wright |
| Publisher | : Cambridge University Press |
| Total Pages | : 525 |
| Release | : 2007-08-02 |
| Genre | : Medical |
| ISBN | : 0521833396 |
This book examines the role of genetics in modern medicine, reflecting the strengths and limitations of a genetic perspective.
| Author | : Claudia Gonzaga-Jauregui |
| Publisher | : Academic Press |
| Total Pages | : 318 |
| Release | : 2021-06-12 |
| Genre | : Medical |
| ISBN | : 0128204362 |
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 | : Muntaser E. Ibrahim |
| Publisher | : Cambridge University Press |
| Total Pages | : 351 |
| Release | : 2019-12-19 |
| Genre | : History |
| ISBN | : 1107072026 |
A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 384 |
| Release | : 2006-11-07 |
| Genre | : Social Science |
| ISBN | : 0309133815 |
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.
| Author | : Dhavendra Kumar |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 611 |
| Release | : 2012-09-15 |
| Genre | : Medical |
| ISBN | : 140202231X |
The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.
| Author | : G. Bradley Schaefer |
| Publisher | : McGraw Hill Professional |
| Total Pages | : 385 |
| Release | : 2013-11-22 |
| Genre | : Medical |
| ISBN | : 0071819282 |
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
| Author | : Rob Elles |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 392 |
| Release | : 2008-02-01 |
| Genre | : Medical |
| ISBN | : 1592594328 |
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
| Author | : William Kemp |
| Publisher | : McGraw Hill Professional |
| Total Pages | : 458 |
| Release | : 2007-08-22 |
| Genre | : Medical |
| ISBN | : 0071593799 |
Get the BIG PICTURE of Pathology - and focus on what you really need to know to score high on the course and board exam If you want a streamlined and definitive look at Pathology - one with just the right balance of information to give you the edge at exam time - turn to Pathology: The Big Picture. You'll find a succinct, user-friendly presentation especially designed to make even the most complex concept understandable in the shortest amount of study time possible. This perfect pictorial and textual overview of Pathology delivers: A “Big Picture” emphasis on what you must know verses “what's nice to know” Expert authorship by award-winning, active instructors Coverage of the full range of pathology topics - everything from cellular adaptations and injury to genetic disorders to inflammation to diseases of immunity Magnificent 4-color illustrations Numerous summary tables and figures for quick reference and rapid retention of even the most difficult topic Highlighted key concepts that underscore integral aspects of histology (key concepts are also listed in a table at the end of each chapter) USMLE-type questions, answers, and explanations to help you anticipate what you'll encounter on the exams And much more!
| Author | : B.A. Ponder |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 222 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9401106770 |
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 | : Peter Donaldson |
| Publisher | : Garland Science |
| Total Pages | : 429 |
| Release | : 2015-08-25 |
| Genre | : Medical |
| ISBN | : 1317334256 |
Genetics of Complex Disease is a concise text for final year undergraduate and first year graduate students. Healthcare professionals and other biomedical scientists trying to come to grips with the impact of new genetics research will also find the book useful. After explaining genetic variation and defining complex diseases, the text shows how and why complex diseases are investigated. The focus then changes to areas where there is strong evidence for the genes/alleles involved. Important ethical consequences are also covered, as are the methods used to generate new genetic data.
