In this book, leading experts provide timely and comprehensive information on methods for conditional mutagenesis in the mouse and their application to model human physiology and pathophysiology. The book illustrates how sophisticated genetic manipulations of the mouse genome are employed to model human diseases and to identify underlying molecular mechanisms. In addition, it considers the development of new drugs to treat human diseases.

This book provides an in depth review of our current knowledge on the role of telomeres and telomerase in ageing, disease and cancer. Telomere shortening results in telomere dysfunction, which represents one of the basic aspects of ageing contributing to the accumulation of DNA damage during ageing. The book describes cell intrinsic checkpoints (senescence and apoptosis) and environmental alterations that limit stem cell function during ageing and disease. The book focuses on experimental data in mouse models and cell lines and, in addition, provides and overview on telomere shortening in human diseases and ageing. The book also describes future directions in research on adult stem cell ageing, telomeres, and cancer. In addition, the book points to potential targets for molecular therapies aiming to improve regeneration and stem cell function during ageing or to impair cancer cell proliferation.

A special focus of the book is on adult stem cells. There is emerging evidence that adult stem cell ageing impairs organismal fitness and survival and contributes to cancer formation (cancer stem cells). The book summarizes basic mechanisms of adult stem cell ageing. Moreover, the authors describe consequences of telomere dysfunction on stem cell function involving cell intrinsic checkpoints as well as environmental alteration of the stem cell niche.

The above subjects appear to be of utmost importance to ageing researchers and physicians. Due to the advances in medicine, food supply and housing a growing percentage of humans reaches a long lifespan (>70 years). At this age molecular mechanisms of ageing limit organ maintenance, fitness and survival. A detailed understanding of the molecular mechanisms underlying the ageing process is essential to further improve quality of life and health span in the ageing human populations.

In summary, this book provides an excellent basis for academic teachers, scientists, and students interested in the areas of stem cell ageing, telomeres & telomerase, regeneration, and cancer. In addition, the book is of interest for physicians since the development of molecular therapies targeting ageing stem cells represents a promising approach to improve regenerative reserve and organ function during ageing and could also serve to target cancer stem cells.

This book provides an up-to-date overview of gastrointestinal malignancies, including prevention, early detection, intervention, and life-extending therapeutics. It also assesses various biomarkers used for diagnostics, prognostics and prediction of response to chemoresistance. Further, it discusses the latest trends in the use of small-molecule targeted therapies and immunotherapies as single agents or combination with other treatments. Since resistance to radiation and chemotherapy contribute to the high recurrence and poor survival rates, improving the outcome for GI malignancies is dependent on the introduction of new biomarkers and therapeutic agents. Lastly, the book systematically investigates novel theranostics approaches using nanotechnology for the detection, diagnosis, and personalized treatment of GI malignancies.

This detailed volume assembles a number of the most commonly used and state-of-the-art methodologies in the revolutionary field of mRNA processing in order to aid researchers in choosing the best method for their specific problems. Given that the vast majority of alternative mRNA processing events has yet to be explored, these techniques promise to breathe new life into the myriad new ideas currently underway. 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. Practical and easy to use, mRNA Processing: Methods and Protocols seeks to aid scientists venturing into what's certain to be another explosive period of growth in this dynamic field of study. The chapter 'Robust, Cost-Effective Profiling of RNA Binding Protein Targets with Single-end Enhanced Crosslinking and Immunoprecipitation (seCLIP)' is published open access under a CC BY 4.0 license at link.springer.com.

Covers research on gene drives in Anopheline mosquitoes for malaria control, including aspects from field trials, modelling, risk assessment, regulatory processes, and ethical/political considerations Includes contributions from international leaders in the field Illustrated throughout with figures and references

This book is a collection of principles and current practices in omics research, applied to skeletal muscle physiology and disorders. The various sections are categorized according to the level of biological organization, namely, genomics (DNA), transcriptomics (RNA), proteomics (protein), and metabolomics (metabolite). With skeletal muscle as the unifying theme, and featuring contributions from leading experts in this traditional field of research, it highlights the importance of skeletal muscle tissue in human development, health and successful ageing. It also discusses other fascinating topics like developmental biology, muscular dystrophies, exercise, insulin resistance and atrophy due to disuse, ageing or other muscle diseases, conveying the vast opportunities for generating new hypotheses as well as testing existing hypotheses by combining high-throughput techniques with proper experiment designs, bioinformatics and statistical analyses. Presenting the latest research techniques, this book is a valuable resource for the physiology community, particularly researchers and grad students who want to explore the new opportunities for omics technologies in basic physiology research.

This volume details practical procedures on the latest DNA vaccine technology. Chapters guide readers through methods and protocols on DNA vaccine design, the adjuvant influence, production and purification methodologies, delivery systems, and approaches of the influence of DNA vaccines in the immunological response performance and in the cancer immunotherapy. 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 cutting-edge, DNA Vaccines: Methods and Protocols aims to ensure successful results in the further study of this vital field.

This book examines the basic cellular and molecular mechanisms associated with aging. It comprehensively describes the genetic, epigenetic, biochemical and metabolic regulation of aging, as well as some important age-related diseases. Divided into two major sections, it takes readers through the various aspects of aging in a story-like manner and suggests various interventions for healthy aging, such as dietary restriction, regular exercise, nutrition and maintaining a balanced and a non-stressful lifestyle. It describes the implications of aging on the nervous system, metabolism, immunity and stem cells as well as care for the elderly. The book is an ideal companion for both new and established researchers in the field and is also useful for educators, clinicians and policy makers.

This second edition volume brings together the experiences of leading scientists in the discipline of cancer gene profiling. Because cancer genes can be profiled in many different ways, Cancer Gene Profiling: Methods and Protocols, Second Edition explores different techniques and approaches needed to understand the key stages of cancer development, as using only one technique would be insufficient. This book provides readers with an overview of the state-of-the-art methods that will enable them to perform these experiments, and demonstrates the kind of analysis that is possible in our current biomedical research. 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, Cancer Gene Profiling: Methods and Protocols, Second Edition is a great resource for any student or practitioner with an interest in cancer gene profiling, and can be used in any well-equipped research laboratory.

This detailed second edition volume expands upon the prior edition by addressing newly emerged technologies as well as improved existing protocols in nucleic acid delivery via nanotechnology. The book addresses topics ranging from chemical synthesis of macromolecules and bioconjugates, novel and established nanoformulations, characterization of these nanoformulations for biophysical, biological and toxicological aspects, and also protocols dealing with application and imaging of such carrier systems in vivo. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective chapters, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Nanotechnology for Nucleic Acid Delivery: Methods and Protocols, Second Edition serves as an ideal guide to researchers seeking to use this vital area of study in their own lab work or to progress knowledge within the field itself.

Genetics and Genomics for the Cardiologist is a concise, but comprehensive volume for the clinical cardiologist or medical student interested in learning how molecular genetics is now being applied to prevention and treatment of heart diseases, from DNA tests to pharmacogenomics and gene-based therapeutics. The volume, written in a plain language, contains detailed figures. A rich glossary, three appendices, many references and several URLs provide additional sources of information.

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication, and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

In this new book, noted geneticist and veteran OUP author, Moyra Smith, will present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation of these advances into evidence-based clinical practice. She will examine experimental and observational research and translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases. She will also examine information technology in genetic medicine, sociocultural factors that impact provision of medical care, and medical education issues with regard to translational genetics in order to help prepare a work force that is better able to utilize evidence-based medicine and to accommodate the rapid changes in genetic and genomic health care.

Sex is a fundamentally important biological variable. Recent years have seen significant progress in the integration of sex in many aspects of basic and clinical research, including analyses of sex differences in brain function. Significant advances in the technology available for studying the endocrine and nervous systems are now coupled with a more sophisticated awareness of the interconnections of these two communication systems of the body. A thorough understanding of the current knowledge, conceptual approaches, methodological capabilities, and challenges is a prerequisite to continued progress in research and therapeutics in this interdisciplinary area.
Sex Differences in the Brain provides scientists with the basic tools for investigating sex differences in brain and behavior and insight into areas where important progress in understanding physiologically relevant sex differences has already been made. This book was edited and co-authored by members of the Isis Fund Network on Sex, Gender, Drugs and the Brain, sponsored by the Society for Womens Health Research.
The book is arranged in three parts. The first part of the book introduces the study of sex differences in the brain, with an overview of how the brain, stress systems, and pharmacogenetics differ in males and females and how this information is important for the study of behavior and neurobiology of both genders. The second part presents examples of sex differences in neurobiology and behavior from both basic and clinical research perspectives, covering both humans and nonhuman animals. The final part discusses sex differences in the neurobiology of disease and neurological disorders.
For interestedindividuals as well as those who are considering conducting research at the intersections of endocrinology, neuroscience, and other areas of biomedicine, the study of sex differences offers exciting and challenging questions and perspectives. This book is intended as a guide and resource for clinicians, scientists, and students.

Population Genetics of Multiple Loci F. B. Christiansen University of Aarhus, Denmark "This is a very beautiful and powerful study of an area that Christiansen has dominated for many years." - Marcus Feldman, Stanford University, USA Population genetics thrives on the constant interaction between theoretical and empirical knowledge. In the first instance, population genetics was developed using one-locus, two-allele models for genetic variation. The simplicity of these models opened up theoretical developments in population and evolutionary genetics to biologists without specialist training in mathematics. Population genetics of multi-allelic loci is more complex and requires more mathematical insight, and its study is predominantly undertaken by mathematical biologists. Traditional formulations of multi-locus theory do not simplify by assuming two alleles per locus. In this elegant presentation the author provides a formulation of multi-locus population genetics that retains the simplicity of two-allele models.
* Provides an accessible and natural extension of classical population genetics to multiple loci
* Exposes the population genetic aspects of sexual reproduction
* Describes the complexity of evolutionary interactions among genes
* Provides the background for insight into the functioning of genetic algorithms applied in computer science
* Written by a world leader in the field
The book is divided into two main sections. Part I - Recombination and Segregation - includes coverage of random mating, inbreeding, migration and mixing. Part II - Selection - covers numerous phenomena involving natural selection including viability, fertility, mutation andmigration. The author has successfully presented the theory in a way that is intelligible to anyone with a reasonably good background in basic mathematics and is devoted to learning multiple loci population genetics. The text is primarily aimed at advanced undergraduate and postgraduate students and researchers interested in genetics and population biology. It is also essential reading for those working or researching in biomathematics and adaptive computing.

This volume shares technologies that detect common epigenetic changes which are very important in the early detection, progression, and prognosis of cancer as well as the design of new therapeutic tools against cancer cells. Beginning with a bit of background on epigenetic mechanisms, Cancer Epigenetics: Risk Assessment, Diagnosis, Treatment, and Prognosis continues with cancer specific type epigenetic change, methods and technologies used for detecting epigenetic changes, factors that influence epigenetic changes in cancer, as well as a final section on future directions in the field. Written for the highly successful Methods in Molecular Biology series, chapters in this volume include the kind of detailed implementation advice that guarantees easily reproducible results. Comprehensive and practical, Cancer Epigenetics: Risk Assessment, Diagnosis, Treatment, and Prognosis provides the most up-to-date knowledge of epigenetics and its implication in cancer prevention by risk assessment and screening and cancer control by treatment.

This volume outlines key steps associated with the design, building, and testing of synthetic metabolic pathways for optimal cell factory performance and robustness, and illustrates how data-driven learning from these steps can be used for rational cost-effective engineering of cell factories with improved performance. Chapters are divided into four sections focusing on the four steps of the iterative design-build-test-learn cycle related to modern cell factory engineering. 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, Synthetic Metabolic Pathways: Methods and Protocols aims to ensure successful results in the further study of this vital field.

The study of molecular events leading to cellular transformation and cancer has progressed considerably during the 1990s. It has become apparent that many genes subject to modification in cancer are, in fact, transcription factors that govern the execution of the genetic programme of the cell. Transcription factors can behave either as oncogenes or as tumor supressor genes. To date only a very limited number of transcription factors have been associated with cancer. This volume gives molecular information on several oncogenes, tumor suppressor genes or chromosomal translocations. Each chapter contains a description of the structure of such transcription factors, the nature of target genes, the regulation of their activities and an explaination of how they can deregulate cell growth and differentiation. This book should be suitable for the specialist scientist and the advanced student

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge.

This third edition provides new and updated chapters on gene therapeutic strategies of cancer. Chapters guide readers through suicide and oncolytic gene therapy, gene replacement and gene suppression therapy, vector development and refinement, immunogene therapy, TCR and CAR engineering, tumor vaccination using DNA or RNA vaccines, and antitumoral immune stimulation at different levels. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists necessary materials and reagents, includes tips on troubleshooting and known pitfalls, and step-by-step, readily reproducible protocols. Authoritative and cutting-edge, Gene Therapy of Cancer: Methods and Protocols, Third Edition aims to be a useful and practical guide to new researchers and experts looking to expand their knowledge.

Evolution's Clinical Guidebook: Translating Ancient Genes into Precision Medicine demonstrates, through well-documented examples, how an understanding of the phylogenetic ancestry of humans allows us to make sense out of the flood of genetic data streaming from modern laboratories and how it can lead us to new ways to prevent, diagnose and treat diseases. Topics cover evolution and human genome, meiosis and other recombinants events, embryology, speciation, phylogeny, rare and common diseases, and the evolution of aging. This book is a valuable source for bioinformaticians and those in the biomedical field who need knowledge, down to gene level, to fully comprehend currently available data.

This book summarizes early pioneering achievements in the field of human neural stem cell (hNSC) research and combines them with the latest advances in stem cell technology, including reprogramming and gene editing. The powerful potential of hNSC to generate and repair the developing and adult CNS has been confirmed by numerous experimental in vitro and in vivo studies. The book presents methods for hNSC derivation and discusses the mechanisms underlying NSC in vitro fate decisions and their in vivo therapeutic mode of action. The long-standing dogma that the human central nervous system (CNS) lacks the ability to regenerate was refuted at the end of the 20th century, when evidence of the presence of neurogenic zones in the adult human brain was found. These neurogenic zones are home to human neural stem cells (hNSCs), which are capable of self-renewing and differentiating into neurons, astrocytes and oligodendrocytes. NSCs isolated from human CNS have a number of clinical advantages, especially the innate potential to differentiate into functional neural cells. Nevertheless, their full clinical exploitation has been hindered by limited access to the tissue and low expansion potential. The search for an alternative to CNS sources of autologous, therapeutically competent hNSCs was the driving force for the many studies proving the in vitro plasticity of different somatic stem cells to generate NSCs and their functional progeny. Now the era of induced pluripotent stem cells has opened entirely new opportunities to achieve research and therapeutic goals with the aid of hNSCs.

"In this remarkably broad and far-reaching work, editor Mark Rothstein and his distinguished list of contributors have laid out an impressive framework for the field. Beginning with a survey of public attitudes, and progressing through scientific, clinical, governmental, legal, economic, and societal issues, the text builds to a final provocative epilogue on consequences for public policy."
—from the Foreword by Francis S. Collins

Pharmacogenomics promises to revolutionize medicine by enabling the prevention, diagnosis, and treatment of diseases at the genome level. While a substantial amount of public and private research focuses on new pharmacogenomic applications, notably less attention has been directed to the ethical, legal, and social implications of "individualized medicine." Mark Rothstein’s timely anthology reduces that scholarship deficit, presenting a multidisciplinary analysis of the scientific, clinical, economic, ethical, social, and legal implications of pharmacogenomics.

Assembling an all-star cast of bioethical scholars, medical researchers, legal scholars, and social scientists, Mark Rothstein examines the promises, questions, and concerns these revolutionary therapies implicitly present. Among other features, Pharmacogenomics:

• Reports for the first time the results of the first detailed, national survey of public attitudes regarding pharmacogenomics
• Covers informed consent, privacy, confidentiality, and risk—benefit evaluations
• Analyzes the potentially enormous changes in the standard of care and the approach to treatment with the development and application of pharmacogenomic technology
• Addresses practical considerations of education, training, oversight, guidelines and protocols, and continuing education requirements
• Recommends approaches to respond to the more complex issues of safety, efficacy, and quality in the distribution and development of individualized therapies
• Explores the new legal standards and implementation challenges
• Offers a policy framework that balances the benefits and risks and considers the wide range of legislative, regulatory, and professional options

Biotechnology and pharmaceutical researchers and regulators, health care professionals and students, and academics and policymakers will find Pharmacogenomics to be a valuable resource.