Translational Research In Genetics And Genomics
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Author | : David Robertson |
Publisher | : Academic Press |
Total Pages | : 812 |
Release | : 2016-11-25 |
Genre | : Science |
ISBN | : 012802111X |
Clinical and Translational Science: Principles of Human Research, Second Edition, is the most authoritative and timely resource for the broad range of investigators taking on the challenge of clinical and translational science, a field that is devoted to investigating human health and disease, interventions, and outcomes for the purposes of developing new treatment approaches, devices, and modalities to improve health. This updated second edition has been prepared with an international perspective, beginning with fundamental principles, experimental design, epidemiology, traditional and new biostatistical approaches, and investigative tools. It presents complete instruction and guidance from fundamental principles, approaches, and infrastructure, especially for human genetics and genomics, human pharmacology, research in special populations, the societal context of human research, and the future of human research. The book moves on to discuss legal, social, and ethical issues, and concludes with a discussion of future prospects, providing readers with a comprehensive view of this rapidly developing area of science. Introduces novel physiological and therapeutic strategies for engaging the fastest growing scientific field in both the private sector and academic medicine Brings insights from international leaders into the discipline of clinical and translational science Addresses drug discovery, drug repurposing and development, innovative and improved approaches to go/no-go decisions in drug development, and traditional and innovative clinical trial designs
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 | : Institute of Medicine |
Publisher | : National Academies Press |
Total Pages | : 116 |
Release | : 2008-06-18 |
Genre | : Medical |
ISBN | : 0309178312 |
Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic diseases, such as cystic fibrosis and Huntington's Disease, but a transformation in the use of genetic and genomic information is underway. While many predictions have been made that genomics will transform medicine, to date few of these promising discoveries have resulted in actual applications in medicine and health. The Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health, established in 2007, held its first workshop to address the following questions: 1. Are there different pathways by which new scientific findings move from the research setting into health care? 2. If so, what are the implications of those different pathways for genomics? 3. What can we learn from the translation of other new technologies as we seek to understand the translation of genome science into health care? Information obtained from the workshop was then used to further discussion and exploration of the answers to these questions. This book summarizes speaker presentations and discussions. Any conclusions reported should not be construed as reflecting a group consensus; rather they are the statements and opinions of presenters and participants.
Author | : Geoffrey S. Ginsburg |
Publisher | : Academic Press |
Total Pages | : 379 |
Release | : 2022-04-09 |
Genre | : Science |
ISBN | : 0128006536 |
Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. - Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers - Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice - Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice - Covers case studies that highlight the practical use of genomics in the management of patients
Author | : Linda S. Pescatello |
Publisher | : Springer Science & Business Media |
Total Pages | : 286 |
Release | : 2011-03-23 |
Genre | : Medical |
ISBN | : 1607613557 |
Exercise Genomics encompasses the translation of exercise genomics into preventive medicine by presenting a broad overview of the rapidly expanding research examining the role of genetics and genomics within the areas of exercise performance and health-related physical activity. Leading researchers from a number of the key exercise genomics research groups around the world have been brought together to provide updates and analysis on the key discoveries of the past decade, as well as lend insights and opinion about the future of exercise genomics, especially within the contexts of translational and personalized medicine. Clinicians, researchers and health/fitness professionals will gain up-to-date background on the key findings and critical unanswered questions across several areas of exercise genomics, including performance, body composition, metabolism, and cardiovascular disease risk factors. Importantly, basic information on genomics, research methods, and statistics are presented within the context of exercise science to provide students and professionals with the foundation from which to fully engage with the more detailed chapters covering specific traits. Exercise Genomics will be of great value to health/fitness professionals and graduate students in kinesiology, public health and sports medicine desiring to learn more about the translation of exercise genomics into preventive medicine.
Author | : Victor J. Dzau, MD |
Publisher | : John Wiley & Sons |
Total Pages | : 328 |
Release | : 2008-04-15 |
Genre | : Medical |
ISBN | : 0470765941 |
Until recently, a modest knowledge of genetics was more than adequate for the daily practice of clinical cardiology, but advances in genetics and genomics are changing cardiovascular medicine in fundamental ways. The identification of the genetic basis of several forms of dyslipidemia, hypertension, diabetes, cardiomyopathies, and vascular diseases signalled the new importance of genetics in clinical medicine. In this timely volume, Drs. Dzau and Liew – both pioneers in the area – help cardiologists understand: • how cardiovascular genetics may remodel the way cardiovascular medicine is practiced • what material has immediate relevance to the practicing clinician • how to incorporate genetics and genomics in your practice to ensure up-to-date patient care The book opens with introductory chapters, then discusses: • cardiovascular single gene disorders • cardiovascular polygenic disorders • therapies and applications Outstanding contributors write on their areas of expertise, making Cardiovascular Genetics and Genomics for the Cardiologist both authoritative and comprehensive. If you want to gain a better appreciation of how genetics and genomics are already shaping current practice and may potentially revolutionize cardiology, look no further than this dependable reference.
Author | : Institute of Medicine |
Publisher | : National Academies Press |
Total Pages | : 354 |
Release | : 2012-09-13 |
Genre | : Science |
ISBN | : 0309224187 |
Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
Author | : Peter J. Neumann |
Publisher | : Oxford University Press |
Total Pages | : 537 |
Release | : 2017 |
Genre | : Business & Economics |
ISBN | : 0190492937 |
CEAs (cost-effectiveness analyses) are used by decision makers in the health sector to make enlightened evaluations and this book provides an in depth look at how to evaluate the evaluator. The book is aimed specifically at Public health specialists.
Author | : Dhavendra Kumar |
Publisher | : Academic Press |
Total Pages | : 360 |
Release | : 2016-06-04 |
Genre | : Science |
ISBN | : 0127999221 |
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Author | : |
Publisher | : Academic Press |
Total Pages | : 244 |
Release | : 2020-03-04 |
Genre | : Medical |
ISBN | : 0128165499 |
Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders' attitudes and perspectives, disclosing results, and clinical, patient-centered protocols.