Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

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.

Genomic and Precision Medicine: Infectious and Inflammatory Disease, Third Edition, provides current clinical solutions on the application of genome discovery on a broad spectrum of disease categories in IMD - including asthma, obesity and multiple sclerosis. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies, along with information on a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field.

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.

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.

Advances in molecular biology and recombinant DNA technology have accelerated progress in many fields of life science research, including gene therapy. A large number of genetic engineering approaches and methods are readily available for gene cloning and therapeutic vector construction. Significant progress is being made in genomic, DNA sequencing, gene expression, gene delivery and cloning. Thus gene therapy has already shown that it holds great promise for the treatment of many diseases and disorders. In general it involves the delivery of recombinant genes or transgenes into somatic cells to replace proteins with a genetic defect or to transfer with the pathological process of an illness. The viral and non-viral delivery systems may hold the potential for future non-invasive, cost-effective oral therapy of genetically-based disorders. Recent years have seen considerable progress in the discovery and early clinical development of a variety of gene therapeutic products. The availability, validation, and implementation of gene therapeutic products has also enabled success in testing and evaluation. New challenges will need to be overcome to ensure that products will also be successful in later clinical development and ultimately for marketing authorisation. These new challenges will include improvements in delivery systems, better control of in-vivo targeting, increased level transduction and duration of expression of the gene, and manufacturing process efficiencies that enable reduction in production costs. Perhaps profound understanding of regulated gene design may result in innovative bioproducts exhibiting safety and efficacy profiles that are significantly superior to those achieved by the use of naturally occurring genes. This procedure may contribute considerably to fulfilling standards set by regulatory authorities. This book provides an overview of the current advances in the field of gene therapy and the methods that are being successfully applied in the manufacture of gene therapeutic products, and hopefully will stimulate further progress and advancement in this field to meet the ever-increasing demands.

"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.

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.

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.

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.

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.

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.

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.

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.

How scientific advances in genetic modification will fundamentally change the natural world The process of manipulating the genetic material of one animal to include the DNA of another creates a new transgenic organism. Several animals, notably goats, mice, sheep, and cattle are now genetically modified in this way. In Our Transgenic Future, Lisa Jean Moore wonders what such scientific advances portend. Will the natural world become so modified that it ceases to exist? After turning species into hybrids, can we ever get back to the original, or are they forever lost? Does genetic manipulation make better lives possible, and if so, for whom? Moore centers the story on goats that have been engineered by the US military and civilian scientists using the DNA of spiders. The goat's milk contains a spider-silk protein fiber; it can be spun into ultra-strong fabric that can be used to manufacture lightweight military body armor. Researchers also hope the transgenically produced spider silk will revolutionize medicine with biocompatible medical inserts such as prosthetics and bandages. Based on in-depth research with spiders in Florida and transgenic goats in Utah, Our Transgenic Future focuses on how these spidergoats came into existence, the researchers who maintain them, the funders who have made their lives possible, and how they fit into the larger science of transgenics and synthetics. This book is a fascinating story about the possibilities of science and the likely futures that may come.

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.

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.

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.

This book presents up-to-date information on the origins of the Ashkenazic Jewish people from central and eastern Europe based on genetic research on modern and pre-modern populations. It focuses on the 129 maternal haplogroups that the author confirmed that Ashkenazim have acquired from distinct female ancestors who were indigenous to diverse lands that include Israel, Italy, Poland, Germany, North Africa, and China, revealing both their Israelite inheritance and the lasting legacy of conversions to Judaism. Genetic connections between Ashkenazic Jews and other Jewish populations, including Turkish Jews, Moroccan Jews, Tunisian Jews, Iranian Jews, and Cochin Jews, are indicated wherever they are known.

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses.

1) General description of the Genetic Polymorphism and its various types 2) Discuss the role of Genetic Polymorphisms in modulating risk of various human diseases 3) Discuss various molecular techniques used for detecting GPs 4) Discuss the role of SNPs in modulating the susceptibility of human diseases 5) Genetic basis for individual variations in response to therapeutics

Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects provides the first in-depth reference for understanding and treating patients of human albinism in Africa. Leading international contributors examine the historical, geographic, psychosocial, genetic and molecular considerations of importance in effectively and sensitively managing this genetic disorder. Foundational chapters covering the historical and psychosocial aspects of albinism are supplemented by discussions of the pathobiology of the disease, as well as a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and incidents of skin cancer involved in the manifestations of this disorder. New prenatal diagnostics and genetic testing methods, genetic risk assessment for individuals, families, and communities, and novel genetic markers that may be used for developing new therapeutics for treating albinism are also discussed in detail. The book provides care management approaches that may be applied to instances of albinism in other regions, along with guiding principles for treating rare genetic disorders and stigmatized patient populations across the globe.

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.