Exploiting genetics and genomics to improve the understanding of eye diseases PDF Download

Author: Denis Plotnikov
Publisher: Frontiers Media SA
ISBN: 283253838X
Category : Science
Languages : en
Pages : 134

View

Book Description

Author: Bruce R. Korf
Publisher: John Wiley & Sons
ISBN: 1118537661
Category : Medical
Languages : en
Pages : 280

View

Book Description
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Author: Tien Y Wong
Publisher:
ISBN: 9781013274091
Category : Medical
Languages : en
Pages : 310

View

Book Description
This book is open access under a CC BY 4.0 license. This open access book discusses basic clinical concepts of myopia, prevention of progression and surgical treatments for myopia and pathological myopia. It also summarises the latest evidence and best practices for managing myopia, high myopia and its complications. Written by leading experts, the book addresses clinical diagnosis and interpretation of imaging modalities, and various complications of myopia such as glaucoma, choroidal neovascularization, retinal degeneration and cataracts. It is a valuable comprehensive resource for general and sub-specialist ophthalmologists as well as residents and ophthalmologists in training.; This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.

Author: National Research Council
Publisher: National Academies Press
ISBN: 0309100674
Category : Science
Languages : en
Pages : 189

View

Book Description
The patenting and licensing of human genetic material and proteins represents an extension of intellectual property (IP) rights to naturally occurring biological material and scientific information, much of it well upstream of drugs and other disease therapies. This report concludes that IP restrictions rarely impose significant burdens on biomedical research, but there are reasons to be apprehensive about their future impact on scientific advances in this area. The report recommends 13 actions that policy-makers, courts, universities, and health and patent officials should take to prevent the increasingly complex web of IP protections from getting in the way of potential breakthroughs in genomic and proteomic research. It endorses the National Institutes of Health guidelines for technology licensing, data sharing, and research material exchanges and says that oversight of compliance should be strengthened. It recommends enactment of a statutory exception from infringement liability for research on a patented invention and raising the bar somewhat to qualify for a patent on upstream research discoveries in biotechnology. With respect to genetic diagnostic tests to detect patient mutations associated with certain diseases, the report urges patent holders to allow others to perform the tests for purposes of verifying the results.

Author: National Research Council
Publisher: National Academies Press
ISBN: 0309106761
Category : Science
Languages : en
Pages : 170

View

Book Description
Although we can't usually see them, microbes are essential for every part of human life-indeed all life on Earth. The emerging field of metagenomics offers a new way of exploring the microbial world that will transform modern microbiology and lead to practical applications in medicine, agriculture, alternative energy, environmental remediation, and many others areas. Metagenomics allows researchers to look at the genomes of all of the microbes in an environment at once, providing a "meta" view of the whole microbial community and the complex interactions within it. It's a quantum leap beyond traditional research techniques that rely on studying-one at a time-the few microbes that can be grown in the laboratory. At the request of the National Science Foundation, five Institutes of the National Institutes of Health, and the Department of Energy, the National Research Council organized a committee to address the current state of metagenomics and identify obstacles current researchers are facing in order to determine how to best support the field and encourage its success. The New Science of Metagenomics recommends the establishment of a "Global Metagenomics Initiative" comprising a small number of large-scale metagenomics projects as well as many medium- and small-scale projects to advance the technology and develop the standard practices needed to advance the field. The report also addresses database needs, methodological challenges, and the importance of interdisciplinary collaboration in supporting this new field.

Author: National Research Council
Publisher: National Academies Press
ISBN: 0309070864
Category : Nature
Languages : en
Pages : 348

View

Book Description
Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309488516
Category : Science
Languages : en
Pages : 123

View

Book Description
The marmoset, a type of small monkey native to South America, is a research model of increasing importance for biomedical research in the United States and globally. Marmosets offer a range of advantages as animal models in neuroscience, aging, infectious diseases, and other fields of study. They may be particularly useful for the development of new disease models using genetic engineering and assisted reproductive technologies. However, concerns have been voiced with respect to the development of new marmoset-based models of disease, ethical considerations for their use, the supply of marmosets available for research, and gaps in guidance for their care and management. To explore and address these concerns, the Roundtable on Science and Welfare in Laboratory Animal Use hosted a public workshop on October 22-23, 2018, in Washington, DC. The workshop focused on the availability of marmosets in the United States and abroad; animal welfare and ethical considerations stemming from the use of wildtype and genetically modified marmosets; and standards of housing and care, dietary needs, and feeding requirements for marmosets in captivity. This publication summarizes the presentations and discussions from the workshop.

Author: United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher:
ISBN:
Category : Political Science
Languages : en
Pages : 568

View

Book Description

Author: Edenilson Brandl
Publisher: Edenilson Brandl
ISBN:
Category : Health & Fitness
Languages : en
Pages : 267

View

Book Description
It is with great enthusiasm that I present to you the book "Genomic Biointelligence". This book is a fascinating journey through the ever-evolving world of genomics and artificial intelligence, exploring their intersection and the role of the genomic biointelligence within this context. Genomics has revolutionized our understanding of the genetic code and brought with it a vast volume of data that challenges our ability to analyze and interpret. On the other hand, artificial intelligence has emerged as a powerful tool to deal with this complexity and extract valuable information from genomic data. Within the pages of this book, you will be guided on a comprehensive journey through key topics related to the application of artificial intelligence in genomics. From the history and evolution of artificial intelligence in genomics research to the latest applications in diagnostics, drug discovery, precision medicine and disease research, each chapter presents an important aspect of this rapidly expanding field. You will learn about genetic algorithms and their application in genomics, mathematical modeling of genomic regulatory networks, the use of neural networks in predicting protein structures, and much more. We will also discuss the challenges and limitations of using artificial intelligence in genomics, as well as ethical issues and the importance of data privacy. In addition, we will highlight the fundamental role of the genomic biointelligencist, a multidisciplinary professional who combines knowledge in genomics, artificial intelligence, bioinformatics and other related areas. The genomic biointelligence plays a crucial role in applying artificial intelligence to advance genomic research, discover new treatments, develop personalized therapies, and drive precision medicine. As we progress through this book, you will be invited to explore recent advances and the exciting possibilities that arise from the combination of genomics and artificial intelligence. Through practical examples, case studies and in-depth discussions, we hope to provide you with a solid understanding of the concepts and applications of this rapidly expanding field. Finally, I would like to express my gratitude to all the experts and researchers who contributed their unique knowledge and insights to this book. Their efforts and dedication are instrumental in advancing the field of genomics and artificial intelligence. I hope you will find this book a valuable source of information and inspiration. May it arouse your curiosity, stimulate discussions and motivate you to further explore the frontiers of knowledge in the field of genomics and artificial intelligence.

Author: F. Bandello
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805599919
Category : Medical
Languages : en
Pages : 170

View

Book Description
In the new book series ESASO Course Series, the essentials of the courses of the European School for Advanced Studies in Ophthalmology (ESASO) are made available to interested ophthalmologists, optometrists, technicians and residents all over the world. In this first volume, the seminars on retina presented by renowned experts during ESASO‘s activities are collected. The authors have incorporated their personal experience and full teaching acumen in their respective chapters. The topics range from molecular biology, to state-of-the-art diagnostic techniques and the newest medical treatment options.This book provides the ophthalmologist with the most recent data and evidence-based medicine on medical retina, and includes multiple areas still under debate. Because of its highly specific and updated information, focusing on the pathogenesis and management of retinal diseases, this publication is a must to all retina specialists.