This highly informative and clearly written book presents the basic science and the latest data on hereditary breast and ovarian cancer (HBOC) to provide an up-to-date and holistic overview of the disease. It starts off by presenting the molecular mechanisms, genetic testing and counseling, and variants of unknown significance (VUS) to help readers understand the contemporary interpretation of the disease. Further chapters focus on the surveillance, diagnosis and treatment, including chemoprevention, risk reduction and drug development based on molecular mechanisms. It also includes a chapter on the latest findings from the HBOC database, ethical issues and the parp inhibitors, and discusses innovative thinking to manage and understand the disease. Hereditary Breast and Ovarian Cancer - Molecular Mechanism and Clinical Practice offers breast surgeons, medical oncologists, gynecological oncologists and genetic counselors a comprehensive overview of the disease. Providing insights into recent scientific findings and further avenues for investigation, it is also a thought-provoking and informative read for researchers and scholars.

Huntington Disease summarizes the most recent findings related to the disease, providing both cutting edge coverage for clinical/research specialists looking to expand their knowledge base of Huntington disease information, as well as solid groundwork for advanced students from various backgrounds (neurology, psychiatry, neuropsychology, genetics). The volume includes all major areas of Huntington disease clinical care and research, whereas many other HD texts focus solely on neurological symptoms. This book also addresses behavioral and cognitive symptoms, brain imaging, and family dynamics and therapeutic alliances in working with individuals affected by HD. Clinical trials are covered extensively, including design considerations for therapeutic studies. The devastating nature of Huntington's disease is well appreciated throughout the neuroscience, neurology, and psychiatric communities, and a great amount of basic and clinical research is currently taking place. However, much of that occurs in isolated research silos, and it is critical that an interdisciplinary resource be developed to provide in depth information to enhance communication and collaboration. This volume in the Handbook of Clinical Neurology series is that resource.

Epigenetics and Systems Biology highlights the need for collaboration between experiments and theoretical modeling that is required for successful application of systems biology in epigenetics studies. This book breaks down the obstacles which exist between systems biology and epigenetics researchers due to information barriers and segmented research, giving real-life examples of successful combinations of systems biology and epigenetics experiments. Each section covers one type of modeling and one set of epigenetic questions on which said models have been successfully applied. In addition, the book highlights how modeling and systems biology relate to studies of RNA, DNA, and genome instability, mechanisms of DNA damage signaling and repair, and the effect of the environment on genome stability.

Big data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. Network Medicine introduces this rapidly evolving field of medical research, which promises to revolutionize the diagnosis and treatment of human diseases. With contributions from leading experts that highlight the necessity of a team-based approach in network medicine, this definitive volume provides readers with a state-of-the-art synthesis of the progress being made and the challenges that remain. Medical researchers have long sought to identify single molecular defects that cause diseases, with the goal of developing silver-bullet therapies to treat them. But this paradigm overlooks the inherent complexity of human diseases and has often led to treatments that are inadequate or fraught with adverse side effects. Rather than trying to force disease pathogenesis into a reductionist model, network medicine embraces the complexity of multiple influences on disease and relies on many different types of networks: from the cellular-molecular level of protein-protein interactions to correlational studies of gene expression in biological samples. The authors offer a systematic approach to understanding complex diseases while explaining network medicine's unique features, including the application of modern genomics technologies, biostatistics and bioinformatics, and dynamic systems analysis of complex molecular networks in an integrative context. By developing techniques and technologies that comprehensively assess genetic variation, cellular metabolism, and protein function, network medicine is opening up new vistas for uncovering causes and identifying cures of disease.

This book provides case studies that can be used in Systems Biology related classes. Each case study has the same structure which answers the following questions: What is the biological problem and why is it interesting? What are the relevant details with regard to cell physiology and molecular mechanisms? How are the details put together into a mathematical model? How is the model analyzed and simulated? What are the results of the model? How do they compare to the known facts of the cell physiology? Does the model make predictions? What can be done to extend the model? The book presents a summary of results and references to more relevant sources. The volume contains the classic collection of topics and studies that are well established yet novel in the systems biology field.

With tremendous success of genomic research in discovering genetic variations determining human diseases, it is now time to re-evaluate how the environment affects disease risk by taking into consideration these genetic findings. This book addresses a rapidly growing interest in assessing the relations between environmental risk factors (such as diet, lifestyle) and human diseases, by considering the potential roles of genomic make-up. The book brings together a selection of chapters written by specialists with a variety of backgrounds such as epidemiology, nutrition, genetics, epigenetics, microbiome, biostatistics and bioinformatics. These authors are united in their concerns on the same scientific question how do genomic events modify the effects of traditional, environmental risk factors on disease risk? This book offers an expert overview of the advances in the field of gene-environment interactions on human diseases and the cutting-edge methods used to detect the interactions. The majority of the chapters provide detailed up-to-date descriptions of the major findings of gene-environment interactions on various chronic diseases and risk factors such as obesity, lipids, diabetes, cardiovascular disease, cancer, multiple sclerosis, pancreatitis, Parkinson's disease, and longevity. The book also covers the potential influence of epigenetic events and microbiome on the relation between environment and diseases. In addition, the book also captures the potential application of the findings from this field in personalised prevention and treatment of human diseases.

One of the most dynamic research areas in the prehistory of East Asian regions is the synthesis of the findings of archaeology, linguistics and genetics. Several countries have only recently opened to field research and highly active local groups have made possible a raft of collaborative studies that would have been impossible even a decade ago. This book presents an overview of the most recent findings in all these fields. It will be of great interest to scholars of all disciplines working on the reconstruction of the East Asian past.

Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets.

Bacterial pili play important roles as environmental sensors, in host colonization and in biofilm formation, enabling bacteria to interact with the environment, with surfaces and with other bacteria and host cells. Most bacteria, both Gram positive and Gram negative, and almost all bacterial pathogens, are piliated. This book discusses the synthesis, structure, evolution, function and role in pathogenesis of these complex structures, and their basis for vaccine development and therapeutics for Streptococcus pathogens. It is an invaluable resource for researchers and students of medical microbiology.

Personalized Epigenetics discusses the core translatability of epigenetics to health management of individuals who have unique variations in their epigenetic signatures that can guide both disorder and disease prevention and therapy. The book details inter-individual variability in the major epigenetic process in humans consisting of DNA methylation, histone modifications, and noncoding RNA, and the diagnostic, prognostic, and therapeutic potential of the field, it also reviews the impact of the environment on epigenetic variations among individuals and the role of pharmacology and drug development in personalized epigenetics. Most importantly, the text covers personalized epigenetics from a disease-oriented perspective, presenting chapters that provide advances in widespread disorders or diseases, including diabetes, cancer, autoimmune disorders, obesity, cardiovascular diseases, neurological disorders, and pain management.

Das zentrale Thema dieses Buchs sind mutagene Verunreinigungen und deren Auswirkungen auf die pharmazeutische Industrie. Die aktuelle Ausgabe umfasst neue Kapitel und aktualisierte Inhalte, in denen die Anwendung der Richtlinie ICH M7 berucksichtigt wird. Gleichzeitig liegt der Schwerpunkt wie zuvor auf dem Thema mutagene Verunreinigungen aus toxikologischer und analytischer Sicht. Auch die neue Ausgabe ist eine wichtige Quelle fur alle, die sich mit dem Problem mutagener Verunreinigungen befassen. Sie enthalt eine klare Darstellung der Richtlinien und konkrete praktische Loesungen, die es den Leserinnen und Lesern ermoeglichen, wirksame Kontrollmassnahmen zu entwickeln.

This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.

Gene Therapy for Viral Infections provides a comprehensive review of the broader field of nucleic acid and its use in treating viral infections. The text bridges the gap between basic science and important clinical applications of the technology, providing a systematic, integrated review of the advances in nucleic acid-based antiviral drugs and the potential advantages of new technologies over current treatment options. Coverage begins with the fundamentals, exploring varying topics, including harnessing RNAi to silence viral gene expression, antiviral gene editing, viral gene therapy vectors, and non-viral vectors. Subsequent sections include detailed coverage of the developing use of gene therapy for the treatment of specific infections, the principles of rational design of antivirals, and the hurdles that currently face the further advancement of gene therapy technology.

Translating Gene Therapy to the Clinic, edited by Dr. Jeffrey Laurence and Michael Franklin, follows the recent, much-lauded special issue of Translational Research in emphasizing clinical milestones and critical barriers to further progress in the clinic. This comprehensive text provides a background for understanding the techniques involved in human gene therapy trials, and expands upon the disease-specific situations in which these new approaches currently have the greatest therapeutic application or potential, and those areas most in need of future research. It emphasizes methods, tools, and experimental approaches used by leaders in the field of translational gene therapy. The book promotes cross-disciplinary communication between the sub-specialties of medicine, and remains unified in theme.

"Clinical Genomics" provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important.

This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing.
Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigmTried and tested practice-based analysis for precision diagnosis and treatment plansSpecific pipelines and meta-analysis for full range of clinically important variants

The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in our knowledge of genetics. Advances in Genetics continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.

This new volume of Methods in Enzymology continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers research methods providing a a theoretical overview on metabolic alterations of cancer cells and a series of protocols that can be employed to study oncometabolism, in vitro, ex vivo and in vivo. Malignant cells exhibit metabolic changes when compared to their normal counterparts, owing to both genetic and epigenetic alterations. Although such a metabolic rewiring has recently been indicated as "yet another" general hallmark of cancer, accumulating evidence suggests that the metabolic alterations of each neoplasm rather represent a molecular signature that intimately accompanies, and hence cannot be severed from, all facets of malignant transformation.
Continues the legacy of this premier serial with quality chapters authored by leaders in the fieldCovers research methods in biomineralization scienceContains sections on such topics providing a a theoretical overview on metabolic alterations of cancer cells and a series of protocols that can be employed to study oncometabolism, in vitro, ex vivo and in vivo."

This volume of the esteemed "Progress in Molecular Biology and Translational Science" series focuses on cutting-edge research related to the genetics of cardiovascular disease. Written by top experts in the field, this volume covers a range of topics, including:

Genetic models of atherosclerosis

MicroRNAs in cardiovascular disease

The role of the transcription factor KLF2 in vascular development and disease

Zebrafish as models of cardiovascular disease and hematopoietic development

"Progress in Molecular Biology and Translational Science" provides a forum for discussion of new discoveries, approaches, and ideas in molecular biology. It contains contributions from leaders in their fields and abundant references.

Key features: The authors are all experts in the fieldThe reviews are in themselves comprehensiveEach topic has the potential to lead to advances in therapy of cardiovascular disease

"Benign & Pathological Chromosomal Imbalances" systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS.

As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment.

Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy.
Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan developmentUniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigateSide-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

"Cancer Genomics" addresses how recent technological advances in genomics are shaping how we diagnose and treat cancer. Built on the historical context of cancer genetics over the past 30 years, the book provides a snapshot of the current issues and state-of-the-art technologies used in cancer genomics. Subsequent chapters highlight how these approaches have informed our understanding of hereditary cancer syndromes and the diagnosis, treatment and outcome in a variety of adult and pediatric solid tumors and hematologic malignancies. The dramatic increase in cancer genomics research and ever-increasing availability of genomic testing are not without significant ethical issues, which are addressed in the context of the return of research results and the legal considerations underlying the commercialization of genomic discoveries. Finally, the book concludes with "Future Directions," examining the next great challenges to face the field of cancer genomics, namely the contribution of non-coding RNAs to disease pathogenesis and the interaction of the human genome with the environment.
Tools such as sidebars, key concept summaries, a glossary, and acronym and abbreviation definitions make this book highly accessible to researchers from several fields associated with cancer genomics.Contributions from thought leaders provide valuable historical perspective to relate the advances in the field to current technologies and literature.

Growing up, Kate Fagan and her father forged their relationship on the basketball court. They were an inseparable pair, two kindred spirits bonded together by sweaty high fives, and an unflappable dedication to the New York Knicks. But as Kate grew older and life added complications to both her love of sport and her role as a daughter, they drifted apart -relying on a yearly pair of matching sneakers to remind each other of their connection. When Christopher, Kate's 6'5" athletic father, was diagnosed with ALS they embarked on a new, entirely uncharted chapter of their relationship. Kate took on the role of full-time caregiver, watching over her father like he had done for her, until his eventual assisted death. And yet while enduring the painful experience of witnessing her idol's rapid deterioration, Kate reconnected with her father to find an even deeper, more meaningful relationship. At its heart, this is a love story between Kate and her dad, the lessons learned, and, ultimately, how his debilitating disease made her reconsider their powerful relationship, along with her own life choices. A perfect meeting of TUESDAYS WITH MORRIE and RUNNING HOME, UNTITLED MEMOIR is written for the women who found their dad on the court, track, pitch, or field. It is an ode to the unbreakable bond between father and daughter and the invaluable understanding they share.

Finally, in the rapidly evolving field of genetic genealogy an up-to-date resource is here A Genetic Genealogy Handbook: The Basics and Beyond provides genealogists with the knowledge and confidence to use DNA testing for family research. The book guides genealogists in understanding various tests and determining what DNA segments came from which ancestor. The book explains how DNA testing helps when written records stop and discusses how testing proves or disprove oral family history. Learn which tests help adoptees; understand why you resemble your relatives and how testing can connect you with cousins you never knew. Discover how to encourage potential cousins to test and learn guidelines for becoming a project administrator, genetic genealogy speaker or facilitator for your genealogical society's DNA interest group. A Genetic Genealogy Handbook: The Basics and Beyond helps experienced and fledgling researchers become genetic genealogists able to use DNA testing to resolve genealogical roadblocks.

This new volume of "Methods in Enzymology" continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers microbial metagenomics, metatranscriptomics, and metaproteomics, and includes chapters on such topics as in-solution FISH for single cell genome preparation, preparation of BAC libraries from marine microbial community DNA, and preparation of microbial community cDNA for metatranscriptomic analysis in marine plankton.
Continues the legacy of this premier serial with quality chapters authored by leaders in the field Covers microbial metagenomics, metatranscriptomics, and metaproteomicsContains chapters on such topics as in-solution fluorescence in situ hybridization (FISH) for single cell genome preparation, preparation of BAC libraries from marine microbial community DNA, and preparation of microbial community cDNA for metatranscriptomic analysis in marine plankton

This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder.
Provides a common language for professionals todiscuss and diagnose genetic steroid disordersIncludes the very latest details on genetic tests and diagnosesOffers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting"

Gene therapy as a treatment for cancer is at a critical point in its evolution. Exciting new developments in gene targeting and vector technology, coupled with results from the first generation of preclinical and clinical studies have led to the design and testing of new therapeutic approaches. The Third Edition of "Gene Therapy of Cancer" provides crucial updates on the basic and applied sciences of gene therapy. It offers a comprehensive assessment of the field including the areas of suicide gene therapy, oncogene and suppressor gene targeting, immunotherapy, drug resistance gene therapy, and the genetic modification of stem cells. Researchers at all levels of development, from basic laboratory investigators to clinical practitioners, will find this book to be instructive.

Cancer gene therapy, like cancer therapy in general, is evolving rapidly, testing new concepts, targets and pathways, evoking new technologies, and passing new regulatory hurdles. Its essence, however, has not changed: the hope and challenges of returning altered genes to normal, using targeted gene expression to alter the function of both tumor and microenvironment, and in some cases normal cells, and delivering functionally important genes to specific cell types to increase sensitivity to killing or to protect normal cells from cancer therapies.

In some instances, gene therapy for cancer forms a continuum from gene repair through the use of molecularly modified cells; the use of viral and non-viral vector based gene delivery to both tumor and tumor microenvironment; the use of viral and gene based vaccines; and development of new gene-based therapeutics. The unique mechanistically chosen vector platforms are at the heart of this technology because they allow for direct and selective cell death and transient to sustained delivery of vaccine molecules or molecules that affect the microenvironment, vasculature, or the immune response.
Explains the underlying cancer biology necessary for understanding proposed therapeutic approaches Presents in-depth description of targeting systems and treatment strategiesCovers the breadth of gene therapy approaches including immunotherapeutic, drug resistance, oncolytic viruses, as well as regulatory perspectives from both the NCI and FDA