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Handbook of Pharmacogenomics and Stratified Medicines

Handbook of Pharmacogenomics and Stratified Medicines
  • Author : Sandosh Padmanabhan
  • Publisher :Unknown
  • Release Date :2014-05-06
  • Total pages :1118
  • ISBN : 0123868823
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Summary : Handbook of Pharmacogenomics and Stratified Medicine is a comprehensive resource to understand this rapidly advancing field aiming to deliver the right drug at the right dose to the right patient at the right time. It is designed to provide a detailed, but accessible review of the entire field from basic principles to applications in various diseases. The chapters are written by international experts to allow readers from a wide variety of backgrounds, clinical and non-clinical (basic geneticists, pharmacologists, clinicians, trialists, industry personnel, ethicists) to understand the principles underpinning the progress in this area, the successes, failures and the challenges ahead. To be accessible to the widest range of readers, the clinical application section introduces the disease process, existing therapies, followed by pharmacogenomics and stratified medicine details. Medicine is the cornerstone of modern therapeutics prescribed on the basis that its benefit should outweigh its risk. It is well known that people respond differently to medications and in many cases the risk-benefit ratio for a particular drug may be a gray area. The last decade has seen a revolution in genomics both in terms of technological innovation and discovering genetic markers associated with disease. In parallel there has been steady progress in trying to make medicines safer and tailored to the individual. This has occurred across the whole spectrum of medicine, some more than others. In addition there is burgeoning interest from the pharmaceutical industry to leverage pharmacogenomics for more effective and efficient clinical drug development. Provides clinical and non-clinical researchers with practical information normally beyond their usual areas of research or expertise Includes an basic principles section explaining concepts of basic genetics, genetic epidemiology, bioinformatics, pharmacokinetics and pharmacodynamics Covers newer technologies- next generation sequencing, proteomics, metabolomics Provides information on animal models, lymphoblastoid cell lines, stem cells Provides detailed chapters on a wide range of disease conditions, implementation and regulatory issues Includes chapters on the global implications of pharmacogenomics

Mastering Pharmacogenomics: A Nurse's Handbook for Success

Mastering Pharmacogenomics: A Nurse's Handbook for Success
  • Author : Dale Halsey Lea,Dennis J. Cheek,Daniel Brazeau,Gayle Brazeau
  • Publisher :Unknown
  • Release Date :2015-01-14
  • Total pages :264
  • ISBN : 9781938835704
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Summary : Pharmacogenomics, the study of the role of genetics in drug response, has developed into a critical new area in battling disease and improving outcomes. As our knowledge of the human genome grows, and with the advent of next-generation sequencing technologies, the role of genetic research is evolving to guide therapy and prevent many diseases and mitigate side-effects of current treatments. As a pivotal member of the healthcare team, nurses must acquire competency in pharmacogenomics to deliver optimal patient care in the 21st century. Mastering Pharmacogenomics provides nursing professionals with a foundational knowledge of human genetics and genomics that can be applied in optimizing drug therapy and patient care delivery. Coverage includes: Essential pharmacogenomics competencies for registered nurses Genomics technologies and resources Critical properties of drug response and disposition Covered specialties include obstetrics and prenatal patients, pediatrics, older adult patients, and oncology Ethics and patient careFuture developments in technology and delivery

Handbook of Personalized Medicine

Handbook of Personalized Medicine
  • Author : Ioannis S. Vizirianakis
  • Publisher :Unknown
  • Release Date :2014-02-12
  • Total pages :1560
  • ISBN : 9789814411202
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Summary : This book compiles multidisciplinary efforts to conceptualize the environment in research and clinical setting that creates the fertile ground for the practical utility of personalized medicine decisions and also enables clinical pharmacogenomics for establishing pharmacotyping in drug prescription. Its covers innovative drug formulations and nanotheranostics, molecular imaging and signatures, translational nanomedicine and informatics, stem cell therapy approaches, modeling and predictability of drug response, pharmacogenetics-guided drug prescription, pediatric drug dosing, pharmacovigilance and regulatory aspects, ethical and cost-effectiveness issues, pharmacogenomics knowledge bases, personal genome sequencing, molecular diagnostics, as well as information-based medicine.

Handbook of Pharmacogenomics and Stratified Medicine

Handbook of Pharmacogenomics and Stratified Medicine
  • Author : Sandosh Padmanabhan
  • Publisher :Unknown
  • Release Date :2014-04-28
  • Total pages :1118
  • ISBN : 9780123868831
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Summary : Handbook of Pharmacogenomics and Stratified Medicine is a comprehensive resource to understand this rapidly advancing field aiming to deliver the right drug at the right dose to the right patient at the right time. It is designed to provide a detailed, but accessible review of the entire field from basic principles to applications in various diseases. The chapters are written by international experts to allow readers from a wide variety of backgrounds, clinical and non-clinical (basic geneticists, pharmacologists, clinicians, trialists, industry personnel, ethicists) to understand the principles underpinning the progress in this area, the successes, failures and the challenges ahead. To be accessible to the widest range of readers, the clinical application section introduces the disease process, existing therapies, followed by pharmacogenomics and stratified medicine details. Medicine is the cornerstone of modern therapeutics prescribed on the basis that its benefit should outweigh its risk. It is well known that people respond differently to medications and in many cases the risk-benefit ratio for a particular drug may be a gray area. The last decade has seen a revolution in genomics both in terms of technological innovation and discovering genetic markers associated with disease. In parallel there has been steady progress in trying to make medicines safer and tailored to the individual. This has occurred across the whole spectrum of medicine, some more than others. In addition there is burgeoning interest from the pharmaceutical industry to leverage pharmacogenomics for more effective and efficient clinical drug development. Provides clinical and non-clinical researchers with practical information normally beyond their usual areas of research or expertise Includes an basic principles section explaining concepts of basic genetics, genetic epidemiology, bioinformatics, pharmacokinetics and pharmacodynamics Covers newer technologies– next generation sequencing, proteomics, metabolomics Provides information on animal models, lymphoblastoid cell lines, stem cells Provides detailed chapters on a wide range of disease conditions, implementation and regulatory issues Includes chapters on the global implications of pharmacogenomics

Applying Pharmacogenomics in Therapeutics

Applying Pharmacogenomics in Therapeutics
  • Author : Xiaodong Feng,Hong-Guang Xie
  • Publisher :Unknown
  • Release Date :2016-02-24
  • Total pages :308
  • ISBN : 9781498782456
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Summary : Recent advances in high-throughput gene sequencing and other omics biotechnologies have served as a springboard for the field of pharmacogenomics. Pharmacogenomics is now generally accepted as the major determinant of variable drug safety, efficacy, and cost-effectiveness. Therefore, widespread use of pharmacogenomics for patient care has become a critical requirement. There is an unprecedented urgency for aspiring and practicing clinicians to become trained on how to interpret data from pharmacogenomic testing in preparation for the future of healthcare—i.e., personalized medicine. Applying Pharmacogenomics in Therapeutics provides timely coverage of the principles, practice, and potential of pharmacogenomics and personalized medicine. Comprised of chapters contributed by well-established pharmacologists and scientists from US and Chinese academia and industry, this authoritative text: Demonstrates how to apply the principles of pharmacogenomics and its biotechnologies in patient care Depicts the use of genetic biomarkers in drug discovery and development, laboratory medicine, and clinical services Describes the practice of pharmacogenomics in the treatment of cancers, cardiovascular diseases, neurologic and psychiatric disorders, and pulmonary diseases Discusses the merging of pharmacogenomics and alternative medicine, as well as the integration of pharmacogenomics into pharmacoeconomics Each chapter begins with the key concepts, followed by in-depth explorations of case reports or critical evaluations of genetic variants/biomarkers, and concludes with questions for self-examination.

Textbook of Personalized Medicine

Textbook of Personalized Medicine
  • Author : Kewal K. Jain
  • Publisher :Unknown
  • Release Date :2009-08-29
  • Total pages :430
  • ISBN : 1441907696
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Summary : Personalized medicine, which simply means selection of treatment best suited for an individual, involves integration and translation of several new technologies in clinical care of patients. The scope is much broader than indicated by the term genomic medicine because many non-genomic factors are taken into consideration in developing personalized medicine. Basic technologies for personalized medicine, of which molecular diagnostics has the biggest share, are mentioned briefly and appropriate references are given for further information. Commercial aspects are discussed briefly in a chapter and detailed analysis of markets and companies involved in personalized medicine is presented in a special report on this topic. There is increasing interest in personalized medicine. Considerable advances have taken place in molecular biology and biotechnology to make personalized medicine a viable option, but some misconceptions still exist, both in the academic and commercial sectors. There is lack of a suitable source of information that provides both the fundamentals as well as applications of personalized medicine. As the latest version of the first monograph on personalized medicine published in 1998, this volume, Textbook of Personalized Medicine, summarizes the author’s efforts during the past decade, as well as reviews selected studies done during this period in a readable format for the physicians and scientists. It is hoped that physicians, pharmacists, scientists and interested lay readers with basic scientific knowledge will find this book useful.

Genomic and Personalized Medicine

Genomic and Personalized Medicine
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2012-10-30
  • Total pages :1350
  • ISBN : 9780123822284
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Summary : Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Advancing Healthcare Through Personalized Medicine

Advancing Healthcare Through Personalized Medicine
  • Author : Priya Hays
  • Publisher :Unknown
  • Release Date :2017-02-24
  • Total pages :167
  • ISBN : 9781315350288
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Summary : This innovative book provides a unique perspective on the biomedical and societal implications of personalized medicine and how it will help mitigate the healthcare crisis and rein in ever-growing expenditure. It introduces the reader to underlying concepts at the heart of personalized medicine - pharmacogenomics, targeted therapies and individualized diagnosis and treatment - and shows how, with the advent of genomic technologies, clinicians will have the capability to predict and diagnose disease more efficiently. Advocating a patient-centred approach at the heart of care, this introduction to personalized medicine, the science behind it, its economic effects, its effects upon patients and its overall implications for society will be invaluable to clinicians, to healthcare providers and to patients.

Pharmacogenomics of Alcohol and Drugs of Abuse

Pharmacogenomics of Alcohol and Drugs of Abuse
  • Author : Amitava Dasgupta,Loralie J. Langman
  • Publisher :Unknown
  • Release Date :2012-04-23
  • Total pages :252
  • ISBN : 9781439856123
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Summary : Pharmacogenomics is the basis of personalized medicine, which is said to be the medicine of the future. Understanding genetic variation in drug and alcohol response is vital for professionals working in rehabilitation programs. The same principles that are applicable for therapeutic drugs are also applicable for drugs of abuse. Pharmacogenomics can supplement traditional therapeutic drug monitoring, potentially predicting correct dosage before initiation of the drug therapy. Applying these principles to testing and treatment, Pharmacogenomics of Alcohol and Drugs of Abuse discusses the role of the clinical laboratory in the practice of personalized medicine. With contributions from a range of experts, the book presents the genetic aspects of alcohol metabolism and other drugs including marijuana, cocaine, and amphetamines. In addition to basic pharmacogenomic aspects, the book addresses slate and trait markers of drugs of abuse so readers can consider setting appropriate biomarker tests in their clinical laboratory.

Cancer Genetics and Genomics for Personalized Medicine

Cancer Genetics and Genomics for Personalized Medicine
  • Author : Il-Jin Kim
  • Publisher :Unknown
  • Release Date :2017-04-11
  • Total pages :286
  • ISBN : 9781315341101
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Summary : This book covers almost all fields of cancer genetics and genomics for personalized medicine. Targeted therapy, or precision medicine, or personalized medicine is becoming a standard treatment for many diseases, including cancer. However, how much do we know about the personalized medicine approach? This lucid book helps undergraduate and graduate students, professional researchers, and clinicians to better understand the key concept of personalized medicine. The most up-to-date topics on personalized medicine in this book cover the recent trends in and updates on lung, gastric, liver, breast, and other types of cancers. Circulating tumor cell, cell-free circulating DNA, and microRNAs are discussed as new diagnostic and prognostic markers for cancer. The avatar mouse model is also discussed for maximizing treatment efficacy and prognosis prediction, and so is microenvironment as a drug resistance mechanism. With classical and new pathological approaches, the book provides a systemic overview of personalized immunotherapies and hyperthermic intraperitoneal chemotherapy, followed by new emerging fields of hereditary cancer, thereby equipping readers to eventually contribute in developing more advanced tools and therapies for curing cancer.

Handbook of Biomarkers and Precision Medicine

Handbook of Biomarkers and Precision Medicine
  • Author : Claudio Carini,Mark Fidock,Alain van Gool
  • Publisher :Unknown
  • Release Date :2019-04-16
  • Total pages :631
  • ISBN : 9780429574627
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Summary : "The field of Biomarkers and Precision Medicine in drug development is rapidly evolving and this book presents a snapshot of exciting new approaches. By presenting a wide range of biomarker applications, discussed by knowledgeable and experienced scientists, readers will develop an appreciation of the scope and breadth of biomarker knowledge and find examples that will help them in their own work." -Maria Freire, Foundation for the National Institutes of Health Handbook of Biomarkers and Precision Medicine provides comprehensive insights into biomarker discovery and development which has driven the new era of Precision Medicine. A wide variety of renowned experts from government, academia, teaching hospitals, biotechnology and pharmaceutical companies share best practices, examples and exciting new developments. The handbook aims to provide in-depth knowledge to research scientists, students and decision makers engaged in Biomarker and Precision Medicine-centric drug development. Features: Detailed insights into biomarker discovery, validation and diagnostic development with implementation strategies Lessons-learned from successful Precision Medicine case studies A variety of exciting and emerging biomarker technologies The next frontiers and future challenges of biomarkers in Precision Medicine Claudio Carini, Mark Fidock and Alain van Gool are internationally recognized as scientific leaders in Biomarkers and Precision Medicine. They have worked for decades in academia and pharmaceutical industry in EU, USA and Asia. Currently, Dr. Carini is Honorary Faculty at Kings’s College School of Medicine, London, UK. Dr. Fidock is Vice President of Precision Medicine Laboratories at AstraZeneca, Cambridge, UK. Prof.dr. van Gool is Head Translational Metabolic Laboratory at Radboud university medical school, Nijmegen, NL.

Routledge Handbook of Genomics, Health and Society

Routledge Handbook of Genomics, Health and Society
  • Author : Sahra Gibbon,Barbara Prainsack,Stephen Hilgartner,Janelle Lamoreaux
  • Publisher :Unknown
  • Release Date :2018-04-17
  • Total pages :316
  • ISBN : 9781315451671
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Summary : The Handbook provides an essential resource at the interface of Genomics, Health and Society, and forms a crucial research tool for both new students and established scholars across biomedicine and social sciences. Building from and extending the first Routledge Handbook of Genetics and Society, the book offers a comprehensive introduction to pivotal themes within the field, an overview of the current state of the art knowledge on genomics, science and society, and an outline of emerging areas of research. Key themes addressed include the way genomic based DNA technologies have become incorporated into diverse arenas of clinical practice and research whilst also extending beyond the clinic; the role of genomics in contemporary ‘bioeconomies’; how challenges in the governance of medical genomics can both reconfigure and stabilise regulatory processes and jurisdictional boundaries; how questions of diversity and justice are situated across different national and transnational terrains of genomic research; and how genomics informs – and is shaped by – developments in fields such as epigenetics, synthetic biology, stem cell, microbial and animal model research. Presenting cutting edge research from leading social science scholars, the Handbook provides a unique and important contribution to the field. It brings a rich and varied cross disciplinary social science perspective that engages with both the history and contemporary context of genomics and ‘post-genomics’, and considers the now global and transnational terrain in which these developments are unfolding.

The Handbook of Biomarkers

The Handbook of Biomarkers
  • Author : Kewal K. Jain
  • Publisher :Unknown
  • Release Date :2017-09-16
  • Total pages :760
  • ISBN : 9781493974313
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Summary : Involved in nearly every therapeutic area, particularly cancer, biomarkers have experienced tremendous advances since the first edition of this book, both in the discovery of biomarkers and in their applications. To aid in this imperative research, Prof. Kewal K. Jain’s Handbook of Biomarkers, Second Edition features a full revision and additional chapters to thoroughly describe many different types of biomarkers and their discovery using various "-omics" technologies, along with the background information needed for the evaluation of biomarkers as well as the essential procedures for their validation and use in clinical trials. With biomarkers described first according to technologies and then according to various diseases, this detailed book features the key correlations between diseases and classifications of biomarkers, which provides the reader with a guide to sort out current and future biomarkers. Comprehensive and cutting-edge, The Handbook of Biomarkers, Second Edition serves as a vital guide to furthering our understanding of biomarkers, which, by facilitating the combination of therapeutics with diagnostics, promise to play an important role in the development of personalized medicine, one of the most important trends in healthcare today.

Toward Precision Medicine

Toward Precision Medicine
  • Author : National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Committee on A Framework for Developing a New Taxonomy of Disease
  • Publisher :Unknown
  • Release Date :2012-01-16
  • Total pages :142
  • ISBN : 9780309222228
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Summary : Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.

Handbook of Pharmaceutical Biotechnology

Handbook of Pharmaceutical Biotechnology
  • Author : Shayne Cox Gad
  • Publisher :Unknown
  • Release Date :2007-05-25
  • Total pages :1680
  • ISBN : 0470117109
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Summary : A practical overview of a full rangeof approaches to discovering, selecting, and producing biotechnology-derived drugs The Handbook of Pharmaceutical Biotechnology helps pharmaceutical scientists develop biotech drugs through a comprehensive framework that spans the process from discovery, development, and manufacturing through validation and registration. With chapters written by leading practitioners in their specialty areas, this reference: Provides an overview of biotechnology used in the drug development process Covers extensive applications, plus regulations and validation methods Features fifty chapters covering all the major approaches to the challenge of identifying, producing, and formulating new biologically derived therapeutics With its unparalleled breadth of topics and approaches, this handbook is a core reference for pharmaceutical scientists, including development researchers, toxicologists, biochemists, molecular biologists, cell biologists, immunologists, and formulation chemists. It is also a great resource for quality assurance/assessment/control managers, biotechnology technicians, and others in the biotech industry.

Personalized and Precision Medicine Informatics

Personalized and Precision Medicine Informatics
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2020
  • Total pages :349
  • ISBN : 303018627X
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Summary : This book adopts an integrated and workflow-based treatment of the field of personalized and precision medicine (PPM). Outlined within are established, proven and mature workflows as well as emerging and highly-promising opportunities for development. Each workflow is reviewed in terms of its operation and how they are enabled by a multitude of informatics methods and infrastructures. The book goes on to describe which parts are crucial to discovery and which are essential to delivery and how each of these interface and feed into one-another. Personalized and Precision Medicine Informatics provides a comprehensive review of the integrative as well as interpretive nature of the topic and brings together a large body of literature to define the topic and ensure that this is the key reference for the topic. It is an unique contribution that is positioned to be an essential guide for both PPM experts and non-experts, and for both informatics and non-informatics professionals.

Precision Cancer Medicine

Precision Cancer Medicine
  • Author : Sameek Roychowdhury,Eliezer M. Van Allen
  • Publisher :Unknown
  • Release Date :2020-01-02
  • Total pages :196
  • ISBN : 9783030236373
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Summary : Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

Preclinical Development Handbook

Preclinical Development Handbook
  • Author : Shayne Cox Gad
  • Publisher :Unknown
  • Release Date :2008-03-21
  • Total pages :1080
  • ISBN : 0470249048
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Summary : A clear, straightforward resource to guide you through preclinical drug development Following this book's step-by-step guidance, you can successfully initiate and complete critical phases of preclinical drug development. The book serves as a basic,comprehensive reference to prioritizing and optimizing leads, toxicity, pharmacogenomics, modeling, and regulations. This single definitive, easy-to-use resource discusses all the issues that need consideration and provides detailed instructions for current methods and techniques. Each chapter was written by one or more leading experts in the field. These authors, representing the many disciplines involved in preclinical toxicology screening and testing, give you the tools needed to apply an effective multidisciplinary approach. The editor, with more than thirty years' experience working with pharmaceutical and biotechnology companies, carefully reviewed all the chapters to ensure that each one is thorough, accurate, and clear. Among the key topics covered are: * In vitro mammalian cytogenetics tests * Phototoxicity * Carcinogenicity studies * The pharmacogenomics of personalized medicine * Bridging studies * Toxicogenomics and toxicoproteomics Each chapter offers a full exploration of problems that may be encountered and their solutions. The authors also set forth the limitations of various methods and techniques used in determining the safety and efficacy of a drug during the preclinical stage. This is a hands-on guide for pharmaceutical scientists involved in preclinical testing,enabling them to perform and document preclinical safety tests to meet all FDA requirements before clinical trials may begin.

Genomic Medicine

Genomic Medicine
  • Author : Dhavendra Kumar,Charis Eng
  • Publisher :Unknown
  • Release Date :2014
  • Total pages :814
  • ISBN : 9780199896028
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Summary : Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

My Beautiful Genome

My Beautiful Genome
  • Author : Lone Frank
  • Publisher :Unknown
  • Release Date :2011-09-01
  • Total pages :320
  • ISBN : 9781851688647
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Summary : Internationally acclaimed science writer Lone Frank swabs up her DNA to provide the first truly intimate account of the new science of consumer-led genomics. She challenges the business mavericks intent on mapping every baby's genome, ponders the consequences of biological fortune-telling, and prods the psychologists who hope to uncover just how much or how little our environment will matter in the new genetic century - a quest made all the more gripping as Frank considers her family's and her own struggles with depression.

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher :Unknown
  • Release Date :2021-02-27
  • Total pages :436
  • ISBN : 9780128205204
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Summary : Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes