Genetics is increasingly important in health care provision, but its relevance on a day-to-day basis is often poorly understood. Genetics for Healthcare Professionals introduces the general principles of genetics and links these to real world examples, to allow nurses, midwives, genetic counselors and doctors to apply this knowledge in their routine clinical practice.
The book takes an holistic family-oriented approach, from preconception to adulthood, and addresses the misconception that clinical genetics is only of relevance to those who are reproducing.
Genetics for Healthcare Professionals is an essential textbook of genetics for nurses, midwives, genetic counselors and doctors. An ideal coursebook for students in the healthcare professions, it is also written for qualified staff seeking an update on current issues and how to apply them in practice.

This book focuses on histone mutations, especially those mutations closely related to cancer. Genetic mutations and epigenetic alterations contribute to the development of a variety of cancers: recent genetic studies have identified e.g. H3K27M and H3G34R/V mutation in over 75% of DIPG cases, H3.3K36M mutation in more than 90% of chondroblastoma cases, and H3G34W/L mutation in over 90% of giant cell tumors of bone. Given the high incidence and tumorigenesis effects of histone H3 mutations, they are also referred to as oncohistones. This book highlights the advances made in the area over the past 10 years, and offers a state-of-the-art summary of epigenetic alternation, gene expression, protein structure, drug discovery, immunotherapy, and mouse modeling of histone H3 mutations in various tumors. Chiefly intended to provide researchers and graduate students with an overall picture of these mutations, it will also be of interest to researchers in basic oncology, clinical oncology, and epigenetics, as well as academics and clinical oncology practitioners.

This book deals with the paradoxical role of autophagy in tumor suppression and tumor promotion in cancer cells. Autophagy plays opposing, context-dependent roles in tumors; accordingly, strategies based on inhibiting or stimulating autophagy could offer as potential cancer therapies. The book elucidates the physiological role of autophagy in modulating cancer metastasis, which is the primary cause of cancer-associated mortality. Further, it reviews its role in the differentiation, development, and activation of multiple immune cells, and its potential applications in tumor immunotherapy. In addition, it examines the effect of epigenetic modifications of autophagy-associated genes in regulating tumor growth and therapeutic response and summarizes autophagy's role in the development of resistance to a variety of anti-cancer drugs in cancer cells. In closing, it assesses autophagy as a potential therapeutic target for cancer treatment. Given its scope, the book offers a valuable asset for all oncologists and researchers who wish to understand the potential role of autophagy in tumor biology.

As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care -- it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities.

In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.

This detailed book explores how microinjection will be used in the foreseeable future, not only for generating animal models for biomedical research but also for changing economically or ecologically important species that can broadly impact our society in general. The opening half of the book focuses on methods for generating mouse models, as they are still the most popular in genome engineering research, while the second half examines gene-editing in a variety of other species, opened up by the developments in ZFN, TALEN, and CRISPR techniques. Written for the highly successful Methods in Molecular Biology 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 practical, Microinjection: Methods and Protocols serves as an ideal guide for researchers looking to take advantage of the breakthrough technologies in gene-editing and embryo micromanipulations.

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 title explains what gene therapy is, how genes are delivered and how they are targeted. It discusses recent gene therapy trials, future applications and considers the ethical and safety issues surrounding gene therapy. Understanding Gene Therapy is a

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

This book offers a comprehensive and detailed overview of various aspects of long non-coding RNAs. It discusses their emerging significance in molecular medicine, ranging from human cancers to cardiovascular and metabolic diseases. Transcriptomic studies have demonstrated that the majority of genomes found in complex organisms are expressed in highly dynamic and cell-specific patterns, producing huge numbers of intergenic, antisense and intronic long non-protein-coding RNAs (lncRNAs). Thousands of lncRNAs have been identified, and unlike mRNA, they have no protein-coding capacity. A large repertoire of ncRNAs, actively transcribed from the mammalian genome, control diverse cellular processes, both in terms of development and diseases, through a variety of gene regulatory mechanisms. IncRNAs have emerged as a new paradigm in epigenetic regulation of the genome. Given its scope, the book will be of particular interest to molecular, chemical, cell and developmental biologists, as well as specialists in translational medicine involved in disease-oriented research. It also offers a valuable resource for in silico experts seeking a deeper understanding of lncRNA expression and function through computational analysis of the NGS data.

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.

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

The book presents a comprehensive and up-to-date overview of phytochemicals as efficient cancer therapeutics. Over the last few decades there has been a paradigm shift from conventional cancer therapeutic approaches to alternative and complementary medicinal approaches especially using phytoconstituents from natural products. As such, the book provides an in-depth understanding of phytochemicals targeting diverse signaling pathways involved in cancer along with the evaluation of the cancer modulatory effects of phytochemicals. It also highlights the potential modulatory effect of single nucleotide polymorphisms (SNPs) on the cancer-associated cellular pathways and their interactions with the phytochemicals. Further, it analyzes the drug delivery methods, bioavailability of active components of botanicals, and toxicity of phytochemicals. Lastly, the book elucidates the 3D cell culture and animal models systems to analyze the beneficial effects of phytochemicals in cancer.

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

This volume focuses on the analysis of miRNA and its many components such as targets and expression profiling, regulation of gene expression, miRNA detection in biofluids, and its application in cancer and wound healing. The chapters in this book explore topics that's cover biogenesis, isolation and profiling of miRNA, exosomal miRNAs, and the study of the functional significance of miRNAs. The chapters also cover screening miRNAs in mR-302/367 induced iPSCs, exosomal miRNAs from iPSC-derived cardiomyocytes proliferation, and the recently discovered sugar-like RNA glycylglycerins. 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, MicroRNA Protocols, Third Edition is a valuable resource that provides researchers with a comprehensive study of miRNAs and its numerous components and uses.

In the last decade, several different optical imaging techniques, either based on various voltage or calcium dyes, or more recently on modified fluorescent or bioluminescent proteins (genetically encoded) that are sensitive to calcium, have been developed to study neuronal activity, and especially groups of neurons, with the goal of mapping and deciphering the neural code underlying major neurophysiological functions. Genetically Encoded Functional Indicators brings together expert contributors to present the development of recent genetic techniques that allow for generating genetically encoded activity sensors in order to investigate neuronal activity. Each chapter describes a specific sensor and its utilization to study neuronal activity in a particular way. Written in the Neuromethods series style, chapters contain the kind of key description and implementation advice that guarantees successful results. Helpful and easy to use, Genetically Encoded Functional Indicators aims to inspire students and researchers and to serve as a useful guide to those who wish to start using these different brain imaging techniques and require a bit of guidance in how best to choose a technique to match the goal of their study.

The release of the complete version of the human genome sequence in 2003 has paved the way for defining gene function and genetic background for phenotypic variation in humans and allowed us to study the aging process in a new light. This new volume results from that research and focuses on the genetic and epigenetic process of aging. While the interpretation of the genome data is still in its initial stages, this new volume looks at the evolving understanding of molecular mechanisms involved in cellular processes, gene function associated with complex traits, epigenetic components involve in gene control and the creation of hypothesis-free genome-wide approaches. Longevity Genes: A Blueprint for Aging explores the genetic and genomic elements that can maintain a long life such as DNA damage mechanisms, epigenetics and the way we can use this knowledge to generate customized treatments. It touches on some of the multidisciplinary approaches as well as genomic-wide association technology used to analyze complex traits. This book describes the hunt for genes affecting complex traits using a high throughput technology, with adequate consideration for the selection of an appropriate population, applications of statistical genetics and computational biology, and most importantly, considering phenotype-genotype association studies. Longevity Genes provides coverage of not only established aspects of genetics and aging, but also new approaches and perceptions in this important area of research.

This book discusses a broad range of basic and advanced topics in the field of protein structure, function, folding, flexibility, and dynamics. Starting with a basic introduction to protein purification, estimation, storage, and its effect on the protein structure, function, and dynamics, it also discusses various experimental and computational structure determination approaches; the importance of molecular interactions and water in protein stability, folding and dynamics; kinetic and thermodynamic parameters associated with protein-ligand binding; single molecule techniques and their applications in studying protein folding and aggregation; protein quality control; the role of amino acid sequence in protein aggregation; muscarinic acetylcholine receptors, antimuscarinic drugs, and their clinical significances. Further, the book explains the current understanding on the therapeutic importance of the enzyme dopamine beta hydroxylase; structural dynamics and motions in molecular motors; role of cathepsins in controlling degradation of extracellular matrix during disease states; and the important structure-function relationship of iron-binding proteins, ferritins. Overall, the book is an important guide and a comprehensive resource for understanding protein structure, function, dynamics, and interaction.

This volume provides a broad overview of issues in the philosophy of behavioral biology, covering four main themes: genetic, developmental, evolutionary, and neurobiological explanations of behavior. It is both interdisciplinary and empirically informed in its approach, addressing philosophical issues that arise from recent scientific findings in biological research on human and non-human animal behavior. Accordingly, it includes papers by professional philosophers and philosophers of science, as well as practicing scientists. Much of the work in this volume builds on presentations given at the international conference, "Biological Explanations of Behavior: Philosophical Perspectives," held in 2008 at the Leibniz Universitat Hannover in Germany. The volume is intended to be of interest to a broad range of audiences, which includes philosophers (e.g., philosophers of mind, philosophers of biology, and metaethicists), as well as practicing scientists, such as biologists or psychologists whose interests relate to biological explanations of behavior. "

This volume explores the latest methods used to study various aspects of TET proteins and their biology. Chapters in this book are divided into five parts. Part One describes technologies aimed at detecting and quantifying DNA methylation turnover using massively parallel sequencing, ELISA, and mass spectrometry approaches. Part Two looks at data analyses protocols for distinguishing acting versus passive DNA demethylation and estimation of 5mC and 5hmC levels. Part Three deals with a new topic that takes advantage of modified CRISPR/Cas9 genome editing systems to target DNA demethylation activity to genomic loci of interest. Part Four discusses protocols that detail how to purify TET proteins and unravel their protein interactions, and Part Five looks at the assessment of TET protein function and activity in vivo and in vitro. 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, TET Proteins and DNA Demethylation: Methods and Protocols is a valuable resource that aims to help research scientists at all levels working in the fields of DNA demethylation dynamics. Chapters 3, 7 and 17 are available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

This essential should serve as an introduction for a contemporary public discussion on genetic engineering. Genetic engineering affects us all in many areas and we must dare to think more colorful and further. In fact, the complete genetic material of viruses and bacteria can already be chemically produced and "brought to life". With genetic surgery, medicine is at a crossroads: do we want to treat hereditary diseases or "repair" them genetically? And the analysis of thousands of human genetic material reveals information that is related to complex diseases, but also to characteristics such as intelligence. How should we use this knowledge? The question is hardly whether we want genetic engineering, but rather how we use it. This Springer essential is a translation of the original German 1st edition essentials, Gentechnik by Roebbe Wunschiers, published by The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Fachmedien Wiesbaden GmbH, part of Springer Nature in 2019. The translation was done with the help of artificial intelligence (machine translation by the service DeepL.com). A subsequent human revision was done primarily in terms of content, so that the book will read stylistically differently from a conventional translation. Springer Nature works continuously to further the development of tools for the production of books and on the related technologies to support the authors.

This book provides an introduction to the principles of pharmacogenomics and precision medicine, followed by the pharmacogenomics aspects of major therapeutic areas such as cardiovascular disease, cancer, organ transplantation, psychiatry, infection, antithrombotic drugs. It also includes genotyping technology and therapeutic drug monitoring in Pharmacogenomics; ethical, Legal and Regulatory Issues; cost-effectiveness of pharmacogenetics-guided treatment; application of pharmacogenomics in drug discovery and development and clinical Implementation of Pharmacogenomics for Personalized Precision Medicine. The contributors of Pharmacogenomics in Precision Medicine come from a team of experts, including professors from academic institutions and practitioner from hospital. It will give an in-depth overview of the current state of pharmacogenomics in drug therapy for all health care professionals and graduate students in the era of precision medicine.