Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders.Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns.Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis.Key features: - Fully updated to provide the very latest information when in a busy consulting room or clinic- Clear and authoritative advice applicable to everyday clinical practice- Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technologyThe eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.

The development of gene-based technologies has been rapid over the past decade and has consequently resulted in a surge of interest in human gene therapy, the deliberate transfer of genes to somatic cells to cure or alleviate disease symptoms.
Hundreds of clinical protocols involving variously designed vectors for efficient gene transfer have been developed. However, the use of such complex 'gene medicines'’ containing potentially heritable genes has raised numerous concerns regarding quality, efficacy and safety.
Encompassing recent developments in the field and addressing current concerns this book:

• surveys many of the current technologies for preparing vectors for use in gene therapy protocols
• reviews the application of gene-mediated therapies to a range of medical conditions
• considers the regulatory aspects of gene therapy including product quality and safety requirements
• appraises the transfer of technologies from laboratory to clinic with regard to the attendant requirements and facilities for:
• good laboratory practice (GLP) conditions in the R&D laboratory
• large-scale production methods and good manufacturing practice (GMP)
• current in-process and final product testing

Written by international experts knowledgeable about many aspects of human somatic gene therapy, this book will be an essential guide for those embarking on gene therapy technologies relevant to specifications of production and testing of products (and procedures) required to meet existing regulations, including quality, efficacy and safety considerations.

As world populations continue to age, the incidence of very common, ultimately fatal neurodegenerative diseases (some of medicine's most puzzling illnesses) will increase exponentially. Neurogenetic Diagnoses, the Power of Hope, and the Limits of Today's Medicine explores the diverse impacts and intense meanings of genetic diagnoses for patients suffering from such diseases, and for their family caregivers and clinicians. Through richly-textured, often heart-wrenching longitudinal case studies, Neurogenetic Diagnoses... reveals how extremely difficult it can be for patients to obtain a definitive diagnosis for the cause of their symptoms, even with genetic testing; how, with or without definitive diagnoses, patients and family caregivers strive to come to terms with their situations; and how they are aided (or not) in these endeavors by their doctors. The analysis is framed by increasingly sharp social debate over the consequences of decoding the human genome -- and the impact of genetic technology on our lives.

Drawing on original empirical data with men who buy sex, this book takes a fresh look at the relationships clients have with female sex workers. The core questions that form the backbone of the research are not only the expected inquiry into 'why men buy sex', but also into the sociological and psychological processes that men encounter in order to enter an assumed 'deviant' sexual behaviour as part of their everyday lives. These sociological processes of finding, negotiating and buying sexual services are complicated by the stigma directed towards men who buy sex. Exactly how do men behave with sex workers; what are their relationships like; what emotions are involved and can intimacy be bought? Questioning the dichotomy made between commercial and non-commercial relationships, the data suggests that intimacy and commerce are compatible. Managing secrecy, stigma and the consumption of intimacy takes this book into some of the more challenging theoretical areas of masculinity and emotional consumption in contemporary society. Drawing some parallels from the author's earlier book Sex Work: A Risky Business, the book offers insights into why engagement in commercial sex is prolific as sexual culture is transformed in late modernity.

From pathology to treatment, MicroRNAs in Diseases and Disorders highlights the role of microRNAs (miRNAs) in the development and progression of a variety of diseases, including cancer, neurological disease, endocrine disease and autoimmune disease, and underscores the utilization of miRNA targets in the treatment of these conditions. Providing a comprehensive account, this book also includes the identification of miRNAs as diagnostic and prognostic biomarkers for disease, as well as evaluates translational value from clinical trials using synthesized and functionalized miRNA mimics and inhibitors. With a global contribution list and chapters from leading experts across the field, MicroRNAs in Diseases and Disorders is an invaluable reference to miRNA researchers and health professionals in a variety of disease areas in government, academia and industry. The book will also appeal to pharmaceutical and medicinal chemists with an interest in miRNA targeting therapeutics, as well as to advanced students in chemical biology and drug discovery.

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.

The 150+ year lifespan of our ancient ancestors can be achieved once again by harnessing the power of our own cells with The Stem Cell Cure! Renowned regenerative and restorative sports medicine doctor Gaurav Goswami, M.D. provides advanced minimally invasive, non-surgical treatments to help his patients get back to peak performance levels - no matter their age. Harnessing the transformative power of stem cells is central to his expertise. In fact, stem cell therapy is proven to be effective in the treatment of many common conditions from arthritis and back pain to Alzheimer's, Parkinson's, and cancer. This book is an accessible and informative introduction to the amazing powers of Stem Cell Therapy - the biggest revolution in medicine since the discovery of penicillin, and a wave of the future. Co-authored by bestselling author and popular keynote speaker Kerry Johnson MBA PhD, The Stem Cell Cure provides specific ways for readers to boost their health and vitality for a lifetime by recovering, regenerating, and repairing injuries and disease.

This book explains the genetic basis of a wide range of dental disorders, including dental caries, periodontitis, congenital anomalies, malocclusions, orofacial pain, dental implant failure, and cancer. Such conditions are typically multifactorial or complex, with involvement of more than one gene as well as environmental influences. A sound grasp of this framework is ever more important, given the emergence of consumer genomics, including direct-to-consumer genetic testing. Dental professionals now need to understand why one person is susceptible to a particular oral health condition while a first-degree relative either does not develop the condition or does so in a less severe form. Knowledge of how genes operate in the susceptible host is essential if patients are to be offered accurate advice about their risks. The information provided in this book will assist in the delivery of effective personalized dental care through optimization of preventive strategies. It will enable the practitioner to explain the extent to which a patient's condition is pure "bad luck", whether that bad luck can be changed by behavioral choices, and how many of our behaviors are influenced by genes.

In the human body, collagen is the most abundant structural protein, forming up to 35% of the entire protein content of the whole body. In this book, the preparation, characterization and applications in tissue regeneration of bovine type 1 collagen are reviewed. Furthermore, collagen is often used in regenerative medicine. In this book, the authors report on the helicity of collagen molecule in fibrils by circular dichroism spectroscopy and the thermograph of fibrils by differential scanning calorimetry (the structural aspects of collagen molecules). In the last chapter, second harmonic generation (SHG) microscopy is reviewed and its potential to visualize collagen fibers in a variety of connective tissues.

This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems

The Organizing Committee of the 15th International Conference on Bioactive Lipids in Cancer, Inflammation and Related Diseases compiled a group of junior investigators to provide reviews on the topics they presented at the Puerto Vallarta Bioactive Lipids conference, as part of the book series, Advances in Experimental Medicine and Biology (AEMB). The book in this series will be titled Bioactive Lipids in Cancer, Inflammation and Related Diseases. Topics range from all classes of lipids including prostaglandins, resolvins, spingolipids, P450-derived lipids, endocannabanoids and phospholipids. The focus includes physiology, cell biology, and structural studies in organisms from bacteria to humans and how these studies addressed the role of lipids in various disease i.e. cancer, inflammation, diabetes, obesity, cardiovascular disease and others.

Explores the Newly Discovered Link Between Nutrition and Epigenetics Current research suggests that nutrients are more than just food components and that certain nutrients can impact the expression of genes that lead to the development of chronic diseases. With contributions from experts in both fields, Nutrients and Epigenetics examines the epigenetic phenomena and the fascinating implications of diet on this largely uncharted field. Generously laden with tables and illustrations, many in color, this book addresses how nutrients alter physiologic and pathologic processes in the human body through epigenetic changes without affecting the DNA sequence. It also explains the detailed molecular structures of epigenetic phenomena and closely examines the current knowledge surrounding the biology of aging and embryonic growth regulation. Assesses the Likelihood of Clinical Applicability In one single compendium, this resource delineates the nutritional factors that further much-studied aberrant epigenetic patterns, such as DNA methylation, histone modifications, and chromatin remodeling. The book spotlights the influence of nutrition on epigenetic gene regulation, opening the way for counteracting future disease processes associated with epigenetic phenomena-a step that could potentially change the face of disease prevention and development.

HIGHLY COMMENDED IN THE 2016 BMA MEDICAL BOOK AWARDS! Instructors' comments on new, 3rd edition: "I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel." "I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!" "I LIKE IT A LOT!!" "The book looks good and we will certainly be recommending it for our medical genetics course this autumn." "This is a fantastic book that I enjoy so much teaching from." "I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end." "I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it." "It's great. I will recommend the book as a main text for the medical student class." In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation a new integrated treatment of epigenetics mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists. Reviews of earlier editions: "This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!" Human Genetics "This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge." European Journal of Human Genetics

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

This detailed book presents an up-to-date view on methods and experimental approaches developed to identify and explore the chromothripsis phenomenon. Beginning with a section exploring the genesis and impact of chromothripsis, the collection continues by covering the identification of chromothripsis, the causal mechanisms of chromothripsis, the bioinformatics tools for chromothripsis analysis, and experimental systems recently developed for the in vitro investigation of chromothripsis. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Chromothripsis: Methods and Protocols serves as a vital resource for cell biologists, molecular biologists, cytogeneticists, and geneticists investigating chromothripsis, but also for students and researchers new to the field of chromothripsis and genomic instability.

Clinical Applications of Immunogenetics: Immunogenetics: A Molecular and Clinical Overview, Volume II provides readers with an exclusive, updated overview of scientific knowledge, achievements and findings in the field of immunogenetics. In thirteen chapters, the book gives insights in new advancements and approaches in viral and autoimmune diseases. Specific chapters are dedicated to immunogenetic mechanisms in the treatment of immune disorders, cancer, neurological and neurodegenerative disorders. In addition, other chapters cover immunogenomics in precision medicine, clinical medicine and transplantation. Finally, a special chapter, COVID-19: A novel challenge to human immune-genetic machinery, updates on thoughts surrounding the pandemic.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

Designed as an aid to students in Genetics counseling classes and professionals interested in honing their skills, Facilitating the Genetic Counseling Process will guide the reader through the why's and how's of assisting clients with these complex issues. The authors' collective years of both teaching students and counseling clients is reflected in the clear, practical approach of this manual.

Genetics, like all scientific disciplines, is a human endeavor. Thus, the lives of geneticists - their friendships, colleagues and associations - play an important role in the historical development of the science. This book summarizes the history of genetics by reviewing the lives of the prominent and influential researchers beginning with the earliest and simplest branches of genetics (studies of inheritance and mutation) and ending with the human genome project - the pinnacle of genetics research of the 20th century. Key selling features: Summarizes the lives of important genetics researchers Reviews the development of important foundational concepts Highlights the way new technologies and methods have advanced the study of genetics Explores the influence of genetics in other biomedical fields Avoids simplistic chronological summary of genetics

This book focuses on the practical application of good clinical practice (GCP) fundamentals and provides insight into roles and responsibilities included in planning, executing, and analyzing clinical trials. The authors describe the design of quality into clinical trial planning and the application of regulatory, scientific, administrative, business, and ethical considerations. Describes the design of quality into the clinical trial planning Has end-of-chapter questions and answers to check learning and comprehension Includes charts that visually summarize the content and allow readers to cross-reference details in relevant chapters Offers a companion website containing supplemental training resources

Genetic epidemiology plays a key role in discovering genetic factors influencing health and disease, and in understanding how genes and environmental risk factors interact. There is growing interest in this field within public health, with the goal of translating the results into promoting health and preventing disease in both families and populations. This textbook provides graduate students with a working knowledge of genetic epidemiology research methods. Following an overview of the field, the book reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of genetic influences on diseases and risk factors. The book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene and genome-side association studies, assessing gene-environment interactions and epistasis, studies of Non-Mendelian inheritance, and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health, and useful web-based genetic analysis software, human reference panels, and repositories, that can greatly facilitate this work, are described. Concluding with a review of ethical issues and a framework for translating human genomics research to clinical practice and public health benefit, this textbook is an essential new resource for graduate students in epidemiology and public health genetics.

While functional foods have become a reasonably well-established concept, personalized nutrition is still treated with skepticism by many. The recognition that people would have different nutrient requirements, or perceive foods in different ways, raises several concerns-some real, some not so real. Nutrigenomics and Nutrigenetics in Functional Foods and Personalized Nutrition addresses what is needed to bring nutrigenomics, nutrigenetics, and their associated technologies to market in a truly impactful way. Edited by Lynnette R. Ferguson, a well-known and internationally respected researcher, the book covers a wide range of issues, from the purely scientific to ethical, consumer-driven, and public health aspects. It takes a close look at gene-diet interactions and explores the ways in which studies on nutrigenomics and nutrigenetics can help modulate disease risk in cardiovascular disease, obesity, diabetes, and inflammatory bowel disease. Topics include regulatory challenges, genetic testing for consumers, data mining, transcriptomic analysis, and the role of science and health professionals in the commercialization of nutrigenomics and nutrigenetics. The book also examines industry-academia partnerships as a nexus between the science and its commercialization by the food industry. These partnerships will be an important determinant of what value the technologies bring, not only to the market but to the wider health and well-being of society. Exploring how nutrigenomics and nutrigenetics can help modulate disease risk, this timely book brings together stimulating, well-thought-out perspectives from established and emerging researchers. It provides valuable information on a subject that is becoming increasingly important for nutritionists, dieticians, and clinical professionals, as well as for the food industry and research community.

A complete background to concepts and principles of behavioral genetics, Neurobehavioral Genetics: Methods and Applications, Second Edition features a broad spectrum of the most current techniques in neurobehavioral genetics in a single source. International researchers incorporate several new developments in the field, including: Developmental neurobehavioral genetics Gene-gene interaction New approaches in bioinformatics Gene expression Single gene techniques Based on various studies of living organisms ranging from primates to rodents to invertebrates, this edition offers a contemporary approach to examining the relationship between the genetic mechanisms in the brain and behavior. The authors examine how past and recent advances in methods and knowledge come together in the comparative genetics of behavior. They introduce the reader to experimental approaches available for the genetic study of emotionality, focusing on the use of animal models. This edition explores studies in neurogenetic disorders, including schizophrenia and bipolar disorders, examines genetic traits in personality such as altruism, and evaluates aggression in mice and humans. It also discusses the applications of quantitative methods and molecular genetics in basic and clinical research. Neurobehavioral Genetics: Methods and Applications, Second Edition brings together new techniques and methods to promote a better understanding of genetics and their effects on behavior. The book is an excellent resource for investigators who want to incorporate genetic methods into neurobehavioral and psychiatric research.

Updated with new chapters and topics, this book provides a comprehensive description of all essential topics in contemporary pharmacokinetics and pharmacodynamics. It also features interactive computer simulations for students to experiment and observe PK/PD models in action. Presents the essentials of pharmacokinetics and pharmacodynamics in a clear and progressive manner Helps students better appreciate important concepts and gain a greater understanding of the mechanism of action of drugs by reinforcing practical applications in both the book and the computer modules Features interactive computer simulations, available online through a companion website at: http://www.uri.edu/pharmacy/faculty/rosenbaum/basicmodels.html Adds new chapters on physiologically based pharmacokinetic models, predicting drug-drug interactions, and pharmacogenetics while also strengthening original chapters to better prepare students for more advanced applications Reviews of the 1st edition: This is an ideal textbook for those starting out and also for use as a reference book ." (International Society for the Study of Xenobiotics) and I could recommend Rosenbaum s book for pharmacology students because it is written from a perspective of drug action ...Overall, this is a well-written introduction to PK/PD . (British Toxicology Society Newsletter)