Human Genetics and Genomics
Human Genetics and Genomics

Author: Bruce R. Korf

Publisher: John Wiley & Sons

Published: 2012-11-19

Total Pages: 280

ISBN-13: 1118537661

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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.

High-Risk Cutaneous Squamous Cell Carcinoma
High-Risk Cutaneous Squamous Cell Carcinoma

Author: Chrysalyne D. Schmults

Publisher: Springer

Published: 2016-04-29

Total Pages: 261

ISBN-13: 3662470810

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This book is a cutting-edge resource that provides clinicians with the up-to-date practical knowledge required in order to manage SCC patients optimally. It summarizes newly available information relating to the definition of high-risk SCC, its pathophysiologic underpinnings, and its management. New prognostic information and staging systems are summarized that enable high-risk tumors to be defined more precisely than ever before. Many helpful tips are provided on the practical management of challenging cases, including multiple tumors/field cancerization, high-risk tumors, nodal metastases, and unresectable disease. The authors are all acknowledged experts in the emerging field of high-risk and advanced SCC.​

Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment
Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment

Author: National Research Council

Publisher: National Academies Press

Published: 2007-12-19

Total Pages: 300

ISBN-13: 0309112982

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The new field of toxicogenomics presents a potentially powerful set of tools to better understand the health effects of exposures to toxicants in the environment. At the request of the National Institute of Environmental Health Sciences, the National Research Council assembled a committee to identify the benefits of toxicogenomics, the challenges to achieving them, and potential approaches to overcoming such challenges. The report concludes that realizing the potential of toxicogenomics to improve public health decisions will require a concerted effort to generate data, make use of existing data, and study data in new waysâ€"an effort requiring funding, interagency coordination, and data management strategies.

The Future of Health Economics
The Future of Health Economics

Author: Olivier Ethgen

Publisher: Routledge

Published: 2016-10-14

Total Pages: 284

ISBN-13: 1317031113

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The pharmaceutical industry faces a well-documented perfect storm: on the one hand, the patent cliff; the lack of new blockbusters and, on the other, economic pressure on pricing from markets with growing expectations and shrinking budgets. In the face of such pressure, traditional health economics models no longer seem appropriate and yet what do we have to replace them? The growing focus on 'value' and 'cost effectiveness' are evidence of new emerging thinking although, even here, with the shift from medicine as cure to medicine as palliative, as a treatment for chronic illness and with the growing emphasis on preventative approaches, the landscape is complex and challenging. The Future of Health Economics offers a window into some of the most influential emerging issues in pharmacoeconomics; issues such as risk-sharing and alternative pricing models or the potential impact of radical new approaches such as personalized medicine; as well as exploring the changing role of government and regulators. Ulf Staginnus and Olivier Ethgen, themselves two of the most well-regarded practitioners in this field, have brought together some leading-edge thinkers from industry and academia around the world to provide the industry, policy-makers, regulators, health practitioners and academics with the raw material for their future scenarios.

Impact of Gene Expression Profiling Tests on Breast Cancer Outcomes
Impact of Gene Expression Profiling Tests on Breast Cancer Outcomes

Author: Luigi Marchionni

Publisher: DIANE Publishing

Published: 2009-05

Total Pages: 230

ISBN-13: 1437911048

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Assesses the evidence that three marketed gene expression-based assays improve prognostic accuracy, treatment choice, and health outcomes in women diagnosed with early stage breast cancer. Three gene expression assays were evaluated; Oncotype DX¿, MammaPrint® and the Breast Cancer Profiling (BCP or H/I ratio) test, and for gene expression signatures underlying the assays. They sought evidence on: analytic performance of tests; clinical validity; clinical utility; harms; and impact on clinical decision making and health care costs. Conclusions: Oncotype DX is furthest along the validation pathway, with retrospective evidence that it predicts distant spread and chemotherapy benefit to a clinically relevant extent over standard predictors. Illus.

Assessing Genetic Risks
Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Molecular Genetic Pathology
Molecular Genetic Pathology

Author: Liang Cheng

Publisher: Springer

Published: 2013-03-05

Total Pages: 1136

ISBN-13: 9781461447993

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Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

Genomic and Precision Medicine
Genomic and Precision Medicine

Author: Geoffrey S. Ginsburg

Publisher: Academic Press

Published: 2017-03-30

Total Pages: 372

ISBN-13: 0128006544

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Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. - Presents a comprehensive volume for primary care providers - Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine - Includes a current overview on major opportunities for genomic and personalized medicine in practice - Highlights case studies that illustrate the practical use of genomics in the management in patients

Essentials of Genomic and Personalized Medicine
Essentials of Genomic and Personalized Medicine

Author: Geoffrey S. Ginsburg

Publisher: Academic Press

Published: 2009-10-02

Total Pages: 851

ISBN-13: 0080958117

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Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials of Genomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine. - Full color throughout - Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field - Introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practic - Ancillary material includes case studies and lab questions which highlight the collaborative approach to the science

Biomarkers in Breast Cancer
Biomarkers in Breast Cancer

Author: Giampietro Gasparini

Publisher: Springer Science & Business Media

Published: 2008-01-17

Total Pages: 335

ISBN-13: 159259915X

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Expert laboratory and clinical researchers from around the world review how to design and evaluate studies of tumor markers and examine their use in breast cancer patients. The authors cover both the major advances in sophisticated molecular methods and the state-of-the-art in conventional prognostic and predictive indicators. Among the topics discussed are the relevance of rigorous study design and guidelines for the validation studies of new biomarkers, gene expression profiling by tissue microarrays, adjuvant systemic therapy, and the use of estrogen, progesterone, and epidermal growth factor receptors as both prognostic and predictive indicators. Highlights include the evaluation of HER2 and EGFR family members, of p53, and of UPA/PAI-1; the detection of rare cells in blood and marrow; and the detection and analysis of soluble, circulating markers.