This book presents clinical and research aspects of medicine and social dimensions of healthcare. It is designed for an audience with interest in health and societal factors. It is in part autobiographical, based on different phases of the author's life in medicine over 50 years, who revisited cases and problems encountered as she worked in different countries, including South Africa, Scotland, England and North America. Essays encompass aspects of clinical medicine and aspects of research, particularly in Genetics and Genomic Medicine. New information on the topic or disorder and current opinions and approaches to finding solutions are reviewed.

This valuable handbook provides a detailed step-by step solution or lengthy discussion for every problem in the text. The handbook also features additional study aids, including extra study problems, chapter outlines, vocabulary exercises, and an overview of how to study genetics.

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, and Lorraine Dugoff fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today's available information and experience in this important area into one convenient resource.

The 3rd World Congress on Genetics, Geriatrics, and Neurodegenerative Disease Research (GeNeDis 2018), focuses on recent advances in genetics, geriatrics, and neurodegeneration, ranging from basic science to clinical and pharmaceutical developments. It also provides an international forum for the latest scientific discoveries, medical practices, and care initiatives. Advanced information technologies are discussed, including the basic research, implementation of medico-social policies, and the European and global issues in the funding of long-term care for elderly people.

There is a new trend in anti-cancer therapeutics development: a targeted therapy and precision medicine that targets a subgroup of patients with specific biomarkers. An in vitro diagnostic (IVD) assay is required to identify a subgroup of cancer patients who would benefit from the targeted therapy, or not likely benefit, or have a high risk of side effects from the specific drug treatment. This IVD or medical device is called a companion diagnostic (CDx) assay. It is key to have a robust CDx assay or device for the success of targeted therapy and precision medicine. This book covers the technical, historical, clinical, and regulatory aspects of CDx in precision medicine. Clearly, more and more newly developed oncology drugs will require accompanying CDx assays, and this book, with chapters contributed by renowned oncologists, provides a comprehensive foundation for the knowledge and application of CDx for precision medicine.

Gene therapy has expanded rapidly over the last decade. The number of clinical trials reported by 2001 included 532 protocols and 3436 patients. Phase I trials predominate with 359 trials of 1774 patients versus Phase II (57 trials with 507 patients) and Phase III (3 trials of 251 patients). The disease overwhelmingly targeted by gene therapy is cancer: involving 331 trials with 2361 patients. Despite the somewhat disappointing results of clinical trials to date, gene therapy offers tremendous promise for the future of cancer therapy. The area of gene therapy is vast, and both malignant and nonmalignant cells can be targeted. Suicide Gene Therapy: Methods and Reviews covers gene therapy that targets malignant cells in a treatment that has become known as "suicide gene therapy. " Basically, this approach uses the transduction of cancer cells with a gene for a foreign enzyme that, when expressed, is able to activate a nontoxic prodrug into a highly cytotoxic drug able to kill the cancer cell population. This is a major area in cancer gene therapy-in 2001 this technique was represented by 52 clinical protocols with a total of 567 patients. Additional trials used multiple gene therapy protocols that also involved suicide gene therapy (83 with 497 patients), indicating that the interest in this area is considerable. Suicide Gene Therapy: Methods and Reviews aims to cover comprehensively, both in theoretical and practical terms, the rapidly evolving area of suicide gene therapy for cancer.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Part of the "Studies in Biology, Economy and Society" series, this book looks at Sir Francis Galton (1822-1911), a grandson of Erasmus Darwin. In his twenties he won fame as an explorer, writing "The Art of Travel", and was on the council of the Geographical Society for many years. He worked at the prediction of weather, and described his discovery of the anticyclone to the Royal Society in 1862 and in "Meteorographica" (1863). He first became an anthropologist in 1862 when he joined the Ethnological Society, which emerged to become the Anthropological Institute in 1871 - Galton was president from 1885 to 1889. He initiated anthropometry and the measurement of human variation, and the use of photography for the analysis of differences, or individual characteristics, in a group. He recognized the uniqueness of "Finger Prints" (1893), and, in 1875, first used the records of pairs of identical twins in his research into the laws of heredity. It was on the publication of the "Origin of the Species" by his cousin Charles that he realized the importance of inheritance and the transmission of characters of body and brain from parent to child. His "Hereditary Genius" came out in 1869, "Inq

"Hox Genes: Methods and Protocols" explores techniques and methodologies which arose from or were successfully applied to the study of Hox genes and Hox proteins, at the intersection of experimental embryology, genetics, biochemistry, physiology, evolutionary biology and other life sciences. This detailed volume begins with a section on discovery and functional analysis of Hox genes and then it continues onward to discuss mode of action and biomedical applications of Hox proteins. Written in the highly successful "Methods in Molecular Biology" series format, 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.

Expert and practical, "Hox Genes: Methods and Protocols" serves as an ideal guide to researchers striving to move forward in this dynamic and exciting area of study.

This is the first comprehensive book on human/animal gene responses to RNA viral infections, including prevalent, emerging and re-emerging RNA viruses such as HIV, SARS-CoV, West Nile virus, influenza virus and many others. Human gene responses are reviewed by leading virologists worldwide in the following aspects: (i) the altered gene expression profiles at the transcriptional and translational levels detected with cutting-edge technologies such as cDNA microarray and proteomics; (ii) host innate and adapted immune responses to viral replication in target organs; (iii) virus-activated signal transduction pathways in cell survival, apoptosis and autophagosomal pathways; and (iv) the small interfering RNA/microRNA-mediated gene silencing pathway, a recently characterized new host defense mechanism against viral infection. Organized into 27 highly accessible and well-illustrated chapters, this volume explores state-of-the-art knowledge of the molecular mechanisms of RNA virus infection and host virus interactions. This comprehensive compilation of the altered gene expression profiles and signal transduction pathways in host cells in response to the majority of human/animal RNA viruses opens new directions for basic and clinical research on viral pathogenesis, and also provides valuable biomarkers for researchers to select gene targets in the development of diagnostic tests and antiviral therapeutics for a number of infectious diseases.

Reflecting developments in genome editing, this third edition volume fully updates a collection of key techniques for the study of functional genomics. The book is broken up into sections on bioinformatics, DNA, RNA, and protein analysis, as well as a closing section entitled "From Genotype to Phenotype." Written in the highly successful Methods in Molecular Biology series format, 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. Updated and authoritative, Functional Genomics: Methods and Protocols, Third Edition seeks to aid scientists in establishing or extending technologies and techniques in their laboratories.

Psychopathy: The Basics is an accessible text that provides a compact introduction to the major findings and debates concerning this complex personality disorder. The book provides an overview of the field and covers a wide range of research findings from genetics to psychosocial developmental explanations. It begins with an exploration of the historical conception of the phenomenon of psychopathy and goes on to discuss its social and cultural accounts. It also delves into biologically based explanations including genetic and evolutionary approaches along with criminological and entrepreneurial types of psychopathy. Offering a balanced perspective, the book addresses the nature-nurture debate in the field and also discusses widely accepted personality traits of psychopaths. Lastly, it also provides a glossary of key terms and suggestions for further reading This text will be an essential read for students of forensic psychology, or criminology. It is also an ideal starting point for those interested in the science of psychopathy and personality disorders.

This book presents the statistical aspects of designing, analyzing and interpreting the results of genome-wide association scans (GWAS studies) for genetic causes of disease using unrelated subjects. Particular detail is given to the practical aspects of employing the bioinformatics and data handling methods necessary to prepare data for statistical analysis. The goal in writing this book is to give statisticians, epidemiologists, and students in these fields the tools to design a powerful genome-wide study based on current technology. The other part of this is showing readers how to conduct analysis of the created study.

Design and Analysis of Genome-Wide Association Studies provides a compendium of well-established statistical methods based upon single SNP associations. It also provides an introduction to more advanced statistical methods and issues. Knowing that technology, for instance large scale SNP arrays, is quickly changing, this text has significant lessons for future use with sequencing data. Emphasis on statistical concepts that apply to the problem of finding disease associations irrespective of the technology ensures its future applications. The author includes current bioinformatics tools while outlining the tools that will be required for use with extensive databases from future large scale sequencing projects. The author includes current bioinformatics tools while outlining additional issues and needs arising from the extensive databases from future large scale sequencing projects.

Pharmacogenomics: Challenges and Opportunities in Therapeutic Implementation, Second Edition, provides comprehensive coverage of the challenges and opportunities facing the therapeutic implications of pharmacogenomics from academic, regulatory, pharmaceutical, socio-ethical and economic perspectives. While emphasis is on the limitations in moving the science into drug development and direct therapeutic applications, this book also focuses on clinical areas with successful applications and important initiatives that have the ability to further advance the discipline. New chapters cover important topics such as pharmacogenomic data technologies, clinical testing strategies, cost-effectiveness, and pharmacogenomic education and practice guidelines. The importance of ethnicity is also discussed, which highlights phar,acogenomic diversity across Latin American populations. With chapters written by interdisciplinary experts and insights into the future direction of the field, this book is an indispensable resource for academic and industry scientists, graduate students and clinicians engaged in pharmacogenomics research and therapeutic implementation.

The one and only comprehensive reference for all aspects of human genetics Unique in breadth and authority The fourth, completely revised edition of this classical reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on hot topics such as epigenetics, pharmacogenetics, gene therapy, cloning and genetic epidemiology. In addition a section giving an overview on the main model organisms (mouse, dog, worm, fly, yeast) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field

Oncogenomics: From Basic Research to Precision Medicine offers a thorough survey of precision medicine and its diagnostic and therapeutic applications in oncology. Gathering contributions from leading international researchers in the field, chapters examine recent translational advances in oncogenomic methods and technologies, detailing novel molecular classifications of tumors as well as diagnostic and prognostic biomarkers for various types of cancers including pancreatic, gastrointestinal, breast, hematological, lung, osteotropic, genitourinary, and skin cancers. This book provides a foundation for clinical oncologists, human geneticists, and physicians to develop new targeted cancer treatments and incorporate genomic medicine into clinical practice, with particular attention paid to noninvasive diagnostic techniques such as the liquid biopsy and molecular characterization of solid malignancies.

Statistical Methods for Survival Trial Design: With Applications to Cancer Clinical Trials Using R provides a thorough presentation of the principles of designing and monitoring cancer clinical trials in which time-to-event is the primary endpoint. Traditional cancer trial designs with time-to-event endpoints are often limited to the exponential model or proportional hazards model. In practice, however, those model assumptions may not be satisfied for long-term survival trials. This book is the first to cover comprehensively the many newly developed methodologies for survival trial design, including trial design under the Weibull survival models; extensions of the sample size calculations under the proportional hazard models; and trial design under mixture cure models, complex survival models, Cox regression models, and competing-risk models. A general sequential procedure based on the sequential conditional probability ratio test is also implemented for survival trial monitoring. All methodologies are presented with sufficient detail for interested researchers or graduate students.

Recent advances in genomic and omics analysis have triggered a revolution affecting nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, and infertility treatment. Reproductomics: The -Omics Revolution and Its Impact on Human Reproductive Medicine demonstrates how various omics technologies are already aiding fertility specialists and clinicians in characterizing patients, counseling couples towards pregnancy success, informing embryo selection, and supporting many other positive outcomes. A diverse range of chapters from international experts examine the complex relationship between genomics, transcriptomics, proteomics, and metabolomics and their role in human reproduction, identifying molecular factors of clinical significance. With this book Editors Jaime Gosalvez and Jose A. Horcajadas have provided researchers and clinicians with a strong foundation for a new era of personalized reproductive medicine.

In the past four years, many genetic loci have been implicated for BMI from the outcomes of genome-wide association studies (GWAS), primarily in adults. Insulin-induced gene 2 (INSIG2) was the first locus to be reported by this method to have a role in obesity but replication attempts have yielded inconsistent outcomes. The identification of the second locus, the fat mass- and obesity-associated gene (FTO), h has been more robustly observed by others. Studies from both FTO knock out and FTO overexpression mouse model support the fact that FTO is directly involved in the regulation of energy intake and metabolism in mice, where the lack of FTO expression leads to leanness while enhanced expression of FTO leads to obesity. Along with numerous other studies, a number of genetic variants have been established robustly in the context of obesity, giving us fresh insights into the pathogenesis of the disease. This book will give a comprehensive overview of efforts aimed at uncovering genetic variants associated with obesity, which have been particularly successful in the past 5 years with the advent of genome-wide association studies (GWAS). This book will cover this state of the art technology and its application to obesity in great detail. Topics covered will include genetics of childhood obesity, genetics of syndromic obesity, copy number variants and extreme obesity, co-morbidities of obesity genetics, and functional follow-up of genetic variants. "

Nystagmus in Infancy and Childhood is a highly-illustrative and thoughtfully written text that provides clinicians and scientists with detailed yet concise information regarding our current understanding, evaluation, and treatments of nystagmus in infancy and childhood. Throughout the text are clinical pearls and narrative observations intended to help the reader appreciate the enormous strides forward in the past 50 years of nystagmus research.
Timely and comprehensive, this book is an "everything you need to know" resource, and will provide the reader with:
- detailed methodologies of investigation, including analysis software, models of the ocular motor system, and current hypotheses regarding ocular motor oscillations
- complementary appendices that can be used for special purposes, i.e., as clinical examination sheets, patient information sheets, and algorithm for computer analysis of nystagmus waveforms
- new therapeutic approaches, using relevant eye-movement data and mechanisms
- a roadmap toward a more rational, data-driven approach to the medical management of infantile nystagmus
As the only resource effectively comprising the past 50 years of nystagmus research and therapeutic implications, Nystagmus in Infancy and Childhood will be a comprehensive and invaluable guide to for both clinicians and scientists who care for infants and children with nystagmus.

Advances in genetics and related biotechnologies are having a profound effect on sport, raising important ethical questions about the limits and possibilities of the human body. Drawing on real case studies and grounded in rigorous scientific evidence, this book offers an ethical critique of current practices and explores the intersection of genetics, ethics and sport. Written by two of the world's leading authorities on the ethics of biotechnology in sport, the book addresses the philosophical implications of the latest scientific developments and technological data. Distinguishing fact from popular myth and science fiction, it covers key topics such as the genetic basis of sport performance and the role of genetic testing in talent identification and development. Its ten chapters discuss current debates surrounding issues such as the shifting relationship between genetics, sports medicine and sports science, gene enhancement, gene transfer technology, doping and disability sport. The first book to be published on this important subject in more than a decade, this is fascinating reading for anyone with an interest in the ethics of sport, bioethics or sport performance.

Analysis of Genetic Association Studies is both a graduate level textbook in statistical genetics and genetic epidemiology, and a reference book for the analysis of genetic association studies. Students, researchers, and professionals will find the topics introduced in Analysis of Genetic Association Studies particularly relevant. The book is applicable to the study of statistics, biostatistics, genetics and genetic epidemiology. In addition to providing derivations, the book uses real examples and simulations to illustrate step-by-step applications. Introductory chapters on probability and genetic epidemiology terminology provide the reader with necessary background knowledge. The organization of this work allows for both casual reference and close study.

Brugada Phenocopy: The Art of Recognizing the Brugada ECG Pattern details all aspects associated with alternative diagnosis to Brugada Syndrome (BrS). Coverage includes how to identify the proper ECG pattern, what to do to investigate for BrP, and how to avoid misinterpretations and the use of unnecessary and expensive treatments. Chapters are written by experienced professionals, many of whom are colleagues that initially described this condition. This easy to use volume is a must have reference for researchers of cardiology, cardiologists, electrocardiologists, internists, emergency care doctors and students, residents and fellows.

Using real data sets throughout, Survival Analysis in Medicine and Genetics introduces the latest methods for analyzing high-dimensional survival data. It provides thorough coverage of recent statistical developments in the medical and genetics fields. The text mainly addresses special concerns of the survival model. After covering the fundamentals, it discusses interval censoring, nonparametric and semiparametric hazard regression, multivariate survival data analysis, the sub-distribution method for competing risks data, the cure rate model, and Bayesian inference methods. The authors then focus on time-dependent diagnostic medicine and high-dimensional genetic data analysis. Many of the methods are illustrated with clinical examples. Emphasizing the applications of survival analysis techniques in genetics, this book presents a statistical framework for burgeoning research in this area and offers a set of established approaches for statistical analysis. It reveals a new way of looking at how predictors are associated with censored survival time and extracts novel statistical genetic methods for censored survival time outcome from the vast amount of research results in genomics.

Epigenetics of Aging and Longevity provides an in-depth analysis of the epigenetic nature of aging and the role of epigenetic factors in mediating the link between early-life experiences and life-course health and aging. Chapters from leading international contributors explore the effect of adverse conditions in early-life that may result in disrupted epigenetic pathways, as well as the potential to correct these disrupted pathways via targeted therapeutic interventions. Intergenerational epigenetic inheritance, epigenetic drug discovery, and the role of epigenetic mechanisms in regulating specific age-associated illnesses-including cancer and cardiovascular, metabolic, and neurodegenerative diseases-are explored in detail. This book will help researchers in genomic medicine, epigenetics, and biogerontology better understand the epigenetic determinants of aging and longevity, and ultimately aid in developing therapeutics to extend the human life-span and treat age-related disease.