Exploiting Genetics to Understand Paediatric Eye Disorders PDF Download
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Author: Denis Plotnikov
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author: Denis Plotnikov
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
Author: Denis Plotnikov
Publisher: Frontiers Media SA
ISBN: 283253838X
Category : Science
Languages : en
Pages : 134
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Author: Gyan Prakash
Publisher: Springer Nature
ISBN: 9811591849
Category : Medical
Languages : en
Pages : 478
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Book Description
This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe.
Author: Gyan Prakash
Publisher: Springer
ISBN: 9811308845
Category : Medical
Languages : en
Pages : 464
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Book Description
This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.
Author: Gyan Prakash
Publisher: Springer
ISBN: 4431565116
Category : Medical
Languages : en
Pages : 519
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Book Description
This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.
Author: Elias Traboulsi
Publisher: Springer
ISBN: 1493927450
Category : Medical
Languages : en
Pages : 784
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Book Description
This case-based approach to the management of pediatric eye diseases and strabismus teaches the novice, as well as the experienced surgeon, how to conceptualize and analyze surgical planning to maximize patient outcomes, allowing readers to “get inside the head of the surgeon.” Individual cases with clear instructions and an abundance of color illustrations, presented by experts in the field, teach critical information one case at a time. Practical Management of Pediatric Ocular Disorders and Strabismus provides the key guiding principles of a traditional textbook in an easy-to-digest format. Each chapter of the text tackles a common or rare clinical situation and begins with the description of an illustrative case. The chapters are structured with sections on case description, differential diagnosis, management and outcomes with a list of possible complications and the approach to their management.
Author: Javier
Publisher:
ISBN:
Category :
Languages : en
Pages : 0
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Book Description
In the fascinating world of ophthalmology, understanding genetic inheritance patterns is crucial for unraveling the mysteries of vision. In this subchapter, we will delve into the intricate mechanisms that govern the transmission of genes related to eye diseases and traits. By comprehending these patterns, students like you can gain a deeper understanding of how genetics influences ophthalmic conditions, paving the way for future breakthroughs in this field. One of the fundamental concepts in genetic inheritance is the distinction between dominant and recessive traits. Dominant traits are those that are expressed even if an individual carries only one copy of the gene responsible for that trait. On the other hand, recessive traits require two copies of the gene to be present for the trait to manifest. Understanding this distinction helps us predict the likelihood of certain eye diseases and traits appearing in individuals and their offspring. Another critical aspect of genetic inheritance is the concept of genetic carriers. Carriers are individuals who possess a recessive gene for a particular trait but do not exhibit any symptoms themselves. This is particularly relevant in ophthalmology, as carriers can unknowingly pass on these genes to their children. By understanding carrier status and inheritance patterns, we can identify individuals who may carry a genetic predisposition to certain eye diseases. Inheritance patterns in ophthalmology can also be influenced by gender. For instance, X-linked inheritance is a pattern in which genes located on the X chromosome are primarily responsible for the development of certain eye conditions. Since males have one X and one Y chromosome, they are more susceptible to X-linked diseases. Females, on the other hand, have two X chromosomes, providing some level of protection against X-linked conditions. Furthermore, genetic inheritance patterns can be further complicated by the phenomenon of genetic mutations. Mutations can occur spontaneously or be inherited from parents and can alter the function of certain genes, leading to the development of eye diseases. By studying these mutations, scientists can gain insights into the underlying causes of these conditions and potentially develop targeted treatments.
Author: Chitra Kannabiran
Publisher: Springer
ISBN: 9789811371486
Category : Medical
Languages : en
Pages : 0
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Book Description
This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.
Author: Stanley Fields
Publisher: MIT Press
ISBN: 0262518643
Category : Science
Languages : en
Pages : 236
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Book Description
How tiny variations in our personal DNA can determine how we look, how we behave, how we get sick, and how we get well. News stories report almost daily on the remarkable progress scientists are making in unraveling the genetic basis of disease and behavior. Meanwhile, new technologies are rapidly reducing the cost of reading someone's personal DNA (all six billion letters of it). Within the next ten years, hospitals may present parents with their newborn's complete DNA code along with her footprints and APGAR score. In Genetic Twists of Fate, distinguished geneticists Stanley Fields and Mark Johnston help us make sense of the genetic revolution that is upon us. Fields and Johnston tell real life stories that hinge on the inheritance of one tiny change rather than another in an individual's DNA: a mother wrongly accused of poisoning her young son when the true killer was a genetic disorder; the screen siren who could no longer remember her lines because of Alzheimer's disease; and the president who was treated with rat poison to prevent another heart attack. In an engaging and accessible style, Fields and Johnston explain what our personal DNA code is, how a few differences in its long list of DNA letters makes each of us unique, and how that code influences our appearance, our behavior, and our risk for such common diseases as diabetes or cancer.
Author: Jamie Metzl
Publisher: Sourcebooks, Inc.
ISBN: 1492670103
Category : Science
Languages : en
Pages : 253
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Book Description
"A gifted and thoughtful writer, Metzl brings us to the frontiers of biology and technology, and reveals a world full of promise and peril." — Siddhartha Mukherjee MD, New York Times bestselling author of The Emperor of All Maladies and The Gene A groundbreaking exploration of genetic engineering and its impact on the future of our species from leading geopolitical expert and technology futurist, Jamie Metzl. At the dawn of the genetics revolution, our DNA is becoming as readable, writable, and hackable as our information technology. But as humanity starts retooling our own genetic code, the choices we make today will be the difference between realizing breathtaking advances in human well-being and descending into a dangerous and potentially deadly genetic arms race. Enter the laboratories where scientists are turning science fiction into reality. In this captivating and thought-provoking nonfiction science book, Jamie Metzl delves into the ethical, scientific, political, and technological dimensions of genetic engineering, and shares how it will shape the course of human evolution. Cutting-edge insights into the field of genetic engineering and its implications for humanity's future Explores the transformative power of genetic technologies and their potential to reshape human life Examines the ethical considerations surrounding genetic engineering and the choices we face as a species Engaging narrative that delves into the scientific breakthroughs and real-world applications of genetic technologies Provides a balanced perspective on the promises and risks associated with genetic engineering Raises thought-provoking questions about the future of reproduction, human health, and our relationship with nature Drawing on his extensive background in genetics, national security, and foreign policy, Metzl paints a vivid picture of a world where advancements in technology empower us to take control of our own evolution, but also cautions against the pitfalls and ethical dilemmas that could arise if not properly managed. Hacking Darwin is a must-read for anyone interested in the intersection of science, technology, and humanity's future.
