Clinical and Translational Science

Clinical and Translational Science
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

Genomics of Rare Diseases

Genomics of Rare Diseases
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

Genomic and Precision Medicine

Genomic and Precision Medicine
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

Cost Effectiveness in Health and Medicine

Cost Effectiveness in Health and Medicine
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.

Evolution of Translational Omics

Evolution of Translational Omics
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.

Medical and Health Genomics

Medical and Health Genomics
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

Heart's Vortex

Heart's Vortex
Author: Ares Pasipoularides
Publisher: PMPH-USA
Total Pages: 958
Release: 2009-11
Genre: Medical
ISBN: 9781607950332

This outstanding resource provides a comprehensive guide to intracardiac blood flow phenomena and cardiac hemodynamics, including the developmental history, theoretical frameworks, computational fluid dynamics, and practical applications for clinical cardiology, cardiac imaging and embryology. It is not a mere compilation of the most up-to-date scientific data and relevant concepts. Rather, it is an integrated educational means to developing pluridisciplinary background, knowledge, and understanding. Such understanding allows an appreciation of the crucial, albeit heretofore generally unappreciated, importance of intracardiac blood flow phenomena in a host of multifaceted functional and morphogenetic cardiac adaptations. The book includes over 400 figures, which were prepared by the author and form a vital part of the pedagogy. It is organized in three parts. Part I, Fundamentals of Intracardiac Flows and Their Measurement, provides comprehensive background from many disciplines that are necessary for a deep and broad understanding and appreciation of intracardiac blood flow phenomena. Such indispensable background spans several chapters and covers necessary mathematics, a brief history of the evolution of ideas and methodological approaches that are relevant to cardiac fluid dynamics and imaging, a qualitative introduction to fluid dynamic stability theory, chapters on physics and fluid dynamics of unsteady blood flows and an intuitive introduction to various kinds of relevant vortical fluid motions. Part II, Visualization of Intracardiac Blood Flows: Methodologies, Frameworks and Insights, is devoted to pluridisciplinary approaches to the visualization of intracardiac blood flows. It encompasses chapters on 3-D real-time and "live 3-D" echocardiography and Doppler echocardiography, CT tomographic scanning modalities, including multidetector spiral/helical dataset acquisitions, MRI and cardiac MRA, including phase contrast velocity mapping (PCVM), etc. An entire chapter is devoted to the understanding of post processing exploration techniques and the display of tomographic data, including "slice-and-dice" 3-D techniques and cine-MRI. Part II also encompasses an intuitive introduction to CFD as it pertains to intracardiac blood flow simulations, followed--in separate chapters--by conceptually rich treatments of the computational fluid dynamics of ejection and of diastolic filling. An entire chapter is devoted to fluid dynamic epigenetic factors in cardiogenesis and pre- and postnatal cardiac remodeling, and another to clinical and basic science perspectives, and their implications for emerging research frontiers. Part III contains an Appendix presenting technical aspects of the method of predetermined boundary motion, "PBM," developed at Duke University by the author and his collaborators.

Secondary Findings in Genomic Research

Secondary Findings in Genomic Research
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.

Economic Evaluation in Genomic Medicine

Economic Evaluation in Genomic Medicine
Author: Vasilios Fragoulakis
Publisher: Academic Press
Total Pages: 174
Release: 2015-03-20
Genre: Science
ISBN: 0128016116

Economic Evaluation in Genomic Medicine introduces health economics and economic evaluation to genomic clinicians and researchers, while also introducing the topic to health economists. Each chapter includes an executive summary, questions, and case studies, along with supplementary online materials, including process guides, maps, flow charts, diagrams, and economic evaluation spreadsheets to enhance the learning process. The text can easily be used as course material for related graduate and undergraduate courses, providing a succinct overview of the existing, state-of-the-art application of economic evaluation to genomic healthcare and precision medicine. - Interrelates economic evaluation and genomic medicine - Instructs healthcare professionals and bioscientists about economic evaluation in genomic medicine - Teaches health economists about application of economic evaluation in genomic medicine - Introduces health economics and economic evaluation to clinicians and researchers involved in genomics - Includes process guides, maps, flow charts and diagrams

Human Genetics and Genomics

Human Genetics and Genomics
Author: Bruce R. Korf
Publisher: John Wiley & Sons
Total Pages: 280
Release: 2012-11-19
Genre: Medical
ISBN: 1118537661

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.