The concept of immunotherapy was in infancy when the first edition was written; since then, major advances have been made, not only with several prominent clinical trials, but also with the approval of cell-based therapy by the FDA for the treatment of cancer in 2010. These events resulted in a gradually narrowing gap between early scientific knowledge and the late development of immune-based therapies. Consequently, the significance and magnitude of these advances warranted a revision of this contribution; this revised edition will provide a deeper understanding of the recent advances and discoveries related to the function of the immune response and their applications in the development of novel therapies to treat human diseases. Some of the key discoveries during the past five years include: the identification of the new subsets of helper T cells; new cytokines and their networks; and novel signal transduction mechanisms. For example, the identification of TH17 subset of helper T cells, in addition to TH1 and TH2 cells, not only advanced our understanding of the function of the basic immune response, but also raised our awareness of the possible etiology and pathogenesis of diseases such as allergy, asthma, rheumatoid arthritis, and other auto-immune/immune system based diseases. The newly identified powerful cytokine networks, that regulate both innate and acquired immune responses, emerged as a result of the finding of new cell types such as innate lymphoid cells and iNKT. Identification of the novel cytokines and their networks has advanced our knowledge of the mechanisms involved in the maintenance of tissue homeostasis, including inflammation and tissue repair during stress and injury. The development of HIV vaccines has also seen dramatic changes over the last few years. There has been a shift from a sole focus on T cell vaccines to a holistic approach that pertains to the induction of both humoral and cellular elements. This entails the induction of antibodies - both binding and neutralizing - to prevent infection. The cellular vaccination produces a safety net of CD8+ T-cell responses to suppress the replication of the virus in the infected patients, and both of the effector arms are aided by helper T cells. From the perspective of clinical applications, significant advances have also been made in: oral immunotherapy for allergic disease, the possible treatment of HIV infection, the development of new monoclonal antibodies and their fragments to treat human diseases, and immune cell based therapies for cancer.

This volume assembles a broad spectrum of methods used in long non-coding RNAs (lncRNA) research, ranging from computational annotation of lncRNA genes to molecular and cellular analyses of the function of individual lncRNA. Long Non-Coding RNAs: Methods and Protocols also discusses methods used to study circular RNAs and RNA splicing, as well as influential findings on lncRNA in human diseases. 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. Thorough and cutting-edge, Long Non-Coding RNAs: Methods and Protocols is a must-have for molecular biologists, cell and developmental biologists, specialists who conduct disease-oriented research, and bioinformatics experts who seek a better understanding on lncRNA expression and function by computational analysis of the massive sequencing data that are rapidly accumulating in recent years.

For decades, "Emeryand Rimoin s Principles and Practice of Medical Genetics "has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice.Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference.

Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set inencompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported byconcisedescriptions of theprinciples of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.
Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular geneticsContainshundreds of full colour illustrations supporting users with identification, concept illustration, and method processingEnhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com"

Current knowledge of the mechanisms that regulate DNA repair has grown significantly over the past years with technology advances such as RNA interference, advanced proteomics and microscopy as well as high throughput screens. The third edition of DNA Repair Protocols covers various aspects of the eukaryotic response to genomic insult including recent advanced protocols as well as standard techniques used in the field of DNA repair. Both mammalian and non-mammalian model organisms are covered in the book, and many of the techniques can be applied with only minor modifications to other systems than the one described. Written in the highly successful Methods in Molecular Biology? series format, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results in the laboratory. Thorough and intuitive, DNA Repair Protocols, Third Edition provides expert guidance for DNA repair, recombination, and replication.

This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology and genetics, and with this in mind, it includes general introductory chapters on genetics and bone biology and more specific disease-orientated chapters, which comprehensively summarize the clinical, genetic, molecular genetic, animal model, functional and molecular pathology, diagnostic, counselling and treatment aspects of each disorder.
Saves academic, medical, and pharma researchers time in quickly accessing the very latest details on a broad range of genetic bone issues, as opposed to searching through thousands of journal articles.

Provides a common language for bone biologists and geneticists to discuss the development of bone cells and genetics and their interactions in the development of disease Researchers in all areas bone biology and genetics will gain insight into how clinical observations and practices can feed back into the research cycle and will, therefore, be able to develop more targeted genomic and proteomic assays

For those clinical researchers who are also MDs, correct diagnosis (and therefore correct treatment) of bone diseases depends on a strong understanding of the molecular basis for the disease.

This book offers comprehensive information on the polymorphisms of genes encoding pattern recognition receptors (PRRs). Following a short description of the general role of PRRs in the immune system, the structure and function of Toll-like and NOD-like receptors are examined in detail. The main focus is on the role of inherited variation in PRRs and their correlation to cancer and cardiovascular diseases. A review of all epidemiological investigations is included, and a concept of genomic risk markers for the prevention of various diseases is also discussed.

This second edition volume expands on the previous edition by presenting updated protocols for several of the techniques described in the first edition of Drosophila: Methods and Protocols and current methods that cover recent breakthroughs in Drosophila research. The book begins with a description of FlyBase--a database of genes and genomes--followed by the presentation of systems for versatile gene expression in the fly. The first few chapters in this book detail gene knockdown and editing, including CRISPR-Cas9 and protein knockdown. The next few chapters are devoted to methods describing live imaging of different tissues and organs, followed by chapters on how to quantify image data and how to probe tissue mechanics by laser ablation. The next two chapters provide methods for analyzing transcription followed by protocols to study growth, metabolism, ageing, and behavior in Drosophila. This volume concludes with chapters on electrophysiological recordings and methods to establish cell lines. 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. Cutting-edge and thorough, Drosophila: Methods and Protocols, Second Edition is a valuable source of hands-on protocols and reviews for molecular, cell, and developmental biologists using Drosophila as model systems in their work.

New developments in science and technology have resulted in shifting ethical challenges in many areas including in genomics research. This book enables those who are involved in genomics research, whether as researcher, participant or policy maker, to understand the ethical issues currently developing in this field and to participate actively in these important debates. A clear account is given of how science and technology are outstripping the capacity of previous ethical regulations to cope with current issues, together with practical illustrations of possible ways forward. Key ethical ideas are presented, drawing on the history of research regulation and on an account of the particular challenges arising in the field of genomics. The book uses a grounded, practical approach to explaining ethical concepts and issues which is geared to enhancing interdisciplinary dialogue. Its broad approach to ethical issues includes relevant considerations from social psychology and there is a particular emphasis on understanding the problems of ethical regulations and practice in the institutional and social context of research. A glossary and numerous text boxes explaining relevant terms and key ideas help to make the work an invaluable resource for both beginners and experts in the field.

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

Written by research experts, this volume of "Progress in Molecular Biology and Translational Science "focuses on current science surrounding the mechanisms of DNA repair.

Key features:

* Contributions from leading authorities * Informs and updates on all the latest developments in the field

Microsatellites or simple sequence repeats (SSRs) have become the markers of choice for a variety of molecular studies because of their versatility, operational flexibility, and lower cost than other marker systems. Microsatellites: Methods and Protocols brings together experts in the field to cover this significant area of research. Broken in to four convenient parts, this volume delves into classical and modern methods for the discovery and development of microsatellite markers, descriptions of amplification and visualization of SSRs, automated capillary sequencers that are widely used for fragment analysis, as well as a variety of methods for the analysis of data obtained by the use of microsatellites. Written for the highly successful Methods in Molecular Biology (TM) 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 invaluable, Microsatellites: Methods and Protocols aims at researchers that need detailed protocols for incorporating microsatellite markers into their projects and expert scientists looking to expand their knowledge of SSRs discovery, use, and analysis.

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor s office, in the courtroom and even in social relationships. In this helpful guidebook, one ofthe most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines.
Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics"

This volume provides a clear and detailed roadmap of how to design and execute a gene therapy experiment in order to obtain consistent results. Chapters in this book disseminate bits of unknown information that are important to consider during the course of experimentation and will answer questions such as: What delivery vehicle do you use?; How will you ensure that your vector retains stability?; What expression system best fits your needs?; What route will you choose to deliver your gene therapy agent?; How will you model the neurodegenerative disorder that you aim to investigate and what are the proven methods to treat these disorders in preclinical models? 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. Authoritative and thorough, Gene Therapy for Neurological Disorders: Methods and Protocols, is a compilation of protocols and instructive chapters intended to give researchers, clinicians, and students of all levels, a foundation upon which future gene therapy experiments can be designed.

The work described in this book is an excellent example of interdisciplinary research in systems biology. It shows how concepts and approaches from the field of physics can be efficiently used to answer biological questions and reports on a novel methodology involving creative computer-based analyses of high-throughput biological data. Many of the findings described in the book, which are the result of collaborations between the author (a theoretical scientist) and experimental biologists and between different laboratories, have been published in high-quality peer-reviewed journals such as Molecular Cell and Nature. However, while those publications address different aspects of post-transcriptional gene regulation, this book provides readers with a complete, coherent and logical view of the research project as a whole. The introduction presents post-transcriptional gene regulation from a distinct angle, highlighting aspects of information theory and evolution and laying the groundwork for the questions addressed in the subsequent chapters, which concern the regulation of the transcriptome as the primary functional carrier of active genetic information.

Management of the Patient at High Risk for Breast Cancer provides a state-of-the art review of patients who are at high risk for breast cancer, how to identify them, the tools available for risk assessment and quantification and indications for genetic counseling and testing. The book summarizes the high risk breast imaging options, including newest techniques and schedules. Pathologic evaluation of high risk lesions are featured as well as the management issues surrounding these lesions. The volume also covers the management of concomitant cancer risk and screening strategies. A concise, yet comprehensive overview of the current status of the topic, Management of the Patient at High Risk for Breast Cancer serves as a useful resource for physicians and researchers dealing with and interested in patients at high risk for breast cancer.

This volume is a compilation of sixteen chapters that detail reverse genetics protocols. Reverse Genetics of RNA Viruses: Methods and Protocols guides readers through comprehensive protocols on RNA viruses, that were the most challenging to obtain and/or that were developed most recently. 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. Authoritative and practical, Reverse Genetics of RNA Viruses: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This issue of Clinics in Laboratory Medicine, Guest Edited by Caroline Astbury, PhD, FACMG, will focus on Cytogenetics, with topics including: Chronic lymphocytic leukemia; Acute lymphocytic leukemia; Acute myelogenous leukemia; Chronic myelogenous leukemia; Plasma cell myeloma; Lymphomas; Solid tumors; Myelodysplastic syndromes; SNP arrays in clinical practice; Prenatal arrays; FISH (including Paraffin-embedded (PET) FISH); New and old microdeletion and microduplication syndromes; Sex chromosome and sex chromosome abnormalities; Autosomal aneuploidy; Microarray-CGH interpretation and Genomic Integrity; Structural chromosome rearrangements and complex chromosome rearrangements; and UPD/imprinting.

"Our Genes, Our Choices: How Genotype and Gene Interactions Affect Behavior" explains how the complexity of human behavior, including concepts of free will, derives from a relatively small number of genes, which direct neurodevelopmental sequence. Are people free to make choices, or do genes determine behavior? Paradoxically, the answer to both questions is "yes," because of neurogenetic individuality, a new theory with profound implications.

Author David Goldman uses judicial, political, medical, and ethical examples to illustrate that this lifelong process is guided by individual genotype, molecular and physiologic principles, as well as by randomness and environmental exposures, a combination of factors that we choose and do not choose.

Written in an authoritative yet accessible style, the book includes practical descriptions of the function of DNA, discusses the scientific and historical bases of genethics, and introduces topics of epigenetics and the predictive power of behavioral genetics.
Poses and resolves challenges to moral responsibility raised by modern genetics and neuroscienceAnalyzes the neurogenetic origins of human behavior and free will Written by one of the world's most influential neurogeneticists, founder of the Laboratory of Neurogenetics at the National Institutes of Health

This new volume in the "Current topics in Developmental Biology" series concentrates on MicroRNAs in Development. It includes chapters on such topics as miRNA networks in neuronal development, let-7 in development, and Hox networks and miRNA. With an international team of authors, this volume is a must-have addition for researchers and students alike.
Concentrates on microRNAs in development Includes chapters on such topics as miRNA networks in neuronal development, let-7 in development, and Hox networks and miRNA With an international team of authors, this volume is a must-have addition for researchers and students alike"

This volume of Methods in Enzymology looks at Gene Transfer Vectors for Clinical Application. The chapters providean invaluable resource for academics, researchers and students alike. With an international board of authors, this volume covers such topics as General principles of retrovirus vector design, Chronic granulomatous disease (CGD), Gene therapy for blindness, and Retrovirus genetic strategy and vector design.
Chapters provide an invaluable resource for academics, researchers and students alikeInternational board of authorsThis volume covers such topics as general principles of retrovirus vector design, chronic granulomatous disease (CGD), gene therapy for blindness, and retrovirus genetic strategy and vector design"

The existence of 'cancer stem cells' (CSCs) has been a topic of heated debate for the last few years within the field of cancer biology. Their continuous characterization in a variety of solid tumors has lead to an abundance of evidence supporting their existence. CSCs are believed to be responsible for resistance against conventional treatment regimes of chemotherapy and radiation, ultimately, leading to metastasis and patient demise. To help aid clinicians, pharmaceutical companies and academic labs investigating how to better kill these highly aggressive cells we have summarized the DNA repair mechanism(s) and their role in the maintenance and regulation of both normal and cancer stem cells. Our book represents a comprehensive investigation into the highly effective DNA repair mechanisms of CSCs and what we need to understand in order to develop more advanced therapies to eradicate them from patients. Currently, there are no other published works entirely on DNA repair and Cancer Stem Cells. In addition, our book provides a comprehensive overview of CSC isolation and characterization from a variety of solid tumor types.

This open access book is a step-by-step introduction on how shell scripting can help solve many of the data processing tasks that Health and Life specialists face everyday with minimal software dependencies. The examples presented in the book show how simple command line tools can be used and combined to retrieve data and text from web resources, to filter and mine literature, and to explore the semantics encoded in biomedical ontologies. To store data this book relies on open standard text file formats, such as TSV, CSV, XML, and OWL, that can be open by any text editor or spreadsheet application. The first two chapters, Introduction and Resources, provide a brief introduction to the shell scripting and describe popular data resources in Health and Life Sciences. The third chapter, Data Retrieval, starts by introducing a common data processing task that involves multiple data resources. Then, this chapter explains how to automate each step of that task by introducing the required commands line tools one by one. The fourth chapter, Text Processing, shows how to filter and analyze text by using simple string matching techniques and regular expressions. The last chapter, Semantic Processing, shows how XPath queries and shell scripting is able to process complex data, such as the graphs used to specify ontologies. Besides being almost immutable for more than four decades and being available in most of our personal computers, shell scripting is relatively easy to learn by Health and Life specialists as a sequence of independent commands. Comprehending them is like conducting a new laboratory protocol by testing and understanding its procedural steps and variables, and combining their intermediate results. Thus, this book is particularly relevant to Health and Life specialists or students that want to easily learn how to process data and text, and which in return may facilitate and inspire them to acquire deeper bioinformatics skills in the future.

This volume looks at the evolution of the topo field over the last year and discusses how DNA topoisomerases are directly and indirectly involved in numerous cellular processes. The chapters in this book cover various topics, such as type 1 topos with an evolutionary perspective; antimicrobial agents targeting topos; experimental protocols related to DNA topology, including a basic technique to measure DNA supercoiling in bacteria; protocols for in vitro studies, including assays to detect RNA topo activity; topo inhibitors; and a study of plasmid-mediated quinolone resistance in bacteria. 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. Cutting-edge and comprehensive, DNA Topoisomerases: Methods and Protoc ols is intended for specialists and non-specialists with an overview of selected hot topics in the field, and the latest protocols to study DNA topology, topoisomerases functions and inhibition by various compounds.

The rapid progression of genetics and molecular biology has turned chromosomal engineering from science fiction to reality, with the successful production of transgenic animals with engineered chromosomes and chromosomes developed for pharmaceutical protein production which are now ready for the medical industry. Mammalian Chromosome Engineering: Methods and Protocols provides the reader with up-to date information on this rapidly evolving field and strives to take the reader into the exciting realm of chromosomal engineering from the basic principles to the practical applications of these new technologies. The five overview and ten protocol chapters cover the engineering of chromosomes with extrachromosomal vectors and transposon systems, the manipulation of naturally occurred minichromosomes, the generation and engineering of synthetic artificial chromosomes, and the induced de novo platform artificial chromosome system. Written in the highly successful Methods in Molecular Biology (TM) series format, protocols chapters contain brief 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 cutting-edge, Mammalian Chromosome Engineering: Methods and Protocols serves as a bench-side resource for current protocols and aims to help scientists to explore the many prospects for future research and vital applications.

"Omics for Personalized Medicine" will give to its prospective readers the insight of both the current developments and the future potential of personalized medicine. The book brings into light how the pharmacogenomics and omics technologies are bringing a revolution in transforming the medicine and the health care sector for the better. Students of biomedical research and medicine along with medical professionals will benefit tremendously from the book by gaining from the diverse fields of knowledge of new age personalized medicine presented in the highly detailed chapters of the book. The book chapters are divided into two sections for convenient reading with the first section covering the general aspects of pharmaocogenomic technology that includes latest research and development in omics technologies. The first section also highlights the role of omics in modern clinical trials and even discusses the ethical consideration in pharmocogenomics. The second section is focusing on the development of personalized medicine in several areas of human health. The topics covered range from metabolic and neurological disorders to non-communicable as well as infectious diseases, and even explores the role of pharmacogenomics in cell therapy and transplantation technology. Thirty-four chapters of the book cover several aspects of pharmacogenomics and personalized medicine and have taken into consideration the varied interest of the readers from different fields of biomedical research and medicine. Advent of pharmacogenomics is the future of modern medicine, which has resulted from culmination of decades of research and now is showing the way forward. The book is an honest endeavour of researchers from all over the world to disseminate the latest knowledge and knowhow in personalized medicine to the community health researchers in particular and the educated public in general.