Medicinsk genetik

This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use.This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal geneticdiagnosis.

The book gives an insight into the theoretical background, conceptual understanding, latest developments, and applications in the field of pharmaceuticals in general and drug design, discovery, biosystems, and biomedical and drug delivery technologies in particular. Knowledge is drawn from various disciplines such as Chemistry, Biology, Material Science and Engineering, Statistics, Biomedicine, and Genetics . A host of applications like bio-imaging, novel biological agents, testing, characterization and validation of drugs, computer-based models in drug design, and application of statistical tools in data analysis, design, and development of drug delivery systems, and ecosystems are dealt with in detail. The said book undoubtedly confirms the requirements of the postgraduate students, research scholars, academicians, scientists, and researchers from the academia, pharmaceutical, biotechnology, and chemical engineering domain. The book covers a conceptual understanding of the exploration of drugs in tandem with intended uses, sound ecosystem development, and carriers for drug and supplement delivery.

This book helps readers discover the forefront of personalized medicine on clinical metabolomics and its applications in genetic diseases. This comprehensive guide offers a functional relationship map between cell components and genetic variations in various diseases, providing insights that can be applied to personalized medicine. The book covers the latest developments in metabolomics for health, with practical guidance for clinical experts looking to advance their laboratory techniques and career. The metabolomics profile is a powerful tool that has revolutionized our understanding of the relationship between genetics, clinical readouts, and disease outcomes. By integrating metabolomics with genomics and clinical phenotypes, the authors have developed diagnostic and prediction models that have vastly improved patient outcomes and deepened the understanding of disease mechanisms. This model has been successfully applied in various conditions, including inborn errors of metabolism, primary immunodeficiency, and endocrine disorders. However, integrating metabolomics with other omics datasets and clinical phenotypes requires careful study design, analytical tools, and data analysis and interpretation. This groundbreaking new book provides essential guidance for researchers, students, and professionals looking to leverage metabolomics in their own work, including biochemical and clinical geneticists, pharmacogenomics and pharmacometabolomics experts, pharmaceutics and diagnostic researchers, medical scientists, clinical dietitians, metabolic engineers, clinical chemists, and personalized medicine specialists.

This book reviews different aspects of the cancer microenvironment, and its regulation and importance for tumor progression. Methodological advancements and practical applications, in terms of how biomarkers are studied and increasingly included in clinical trials and therapy protocols, are described and discussed. Biomarkers of the Tumor Microenvironment is an educational resource for students and members of the cancer research community as a whole, especially for those using morphology analysis techniques and models focusing on the cross-talk between different cell types in tumors. The textbook provides a comprehensive overview of the microenvironment in various contexts from the perspectives of experienced and accomplished cancer researchers and clinicians.

This book, built on the latest internationally recognized classification system to which the volume editor contributed, offers a unique and comprehensive reference guide to the clinical presentation, characteristics and proper treatment of the wide spectrum of congenital malformations of the inner ear (IEM). IEMs are common, accounting for roughly 20% of congenital hearing loss cases, and can be difficult to manage: 8 groups are identified, which are completely different from each other. With a wealth of color figures and extra videos, the book provides an in-depth description of all the relevant aspects: from histopathology assessment, to preoperative evaluation, genetics, different surgical and non-surgical options, and outcomes. The results from two international Consensus Pediatric Auditory Brainstem Implantation Meetings are also included.Written by leading experts in the field, this volume will be an invaluable and multidisciplinary tool for otolaryngologists, audiologists and radiologists, while also benefiting scientists dealing with genetics, and neurosurgeons dealing with brainstem implants. 

Have you or a family member struggled to lose weight despite years of dieting? Do you struggle with a chronic disease that won't resolve? Are you reaching an age where menopause symptoms are affecting your lifestyle? Or do you just need a decent night's sleep and less brain fog?By combining breakthrough science in epigenetics with unique genetic blueprints, the authors in this book demonstrate how you can find the true path for you and your body toward health. With practical examples of how to take your health and longevity into your own hands, this book provides real-life stories of practitioners and clients who have changed their health, wellness, and longevity by applying precision health practices unique to their genetic blueprint.Traditional approaches to weight loss, menopause, and other chronic health conditions will have us believe that a cookie-cutter approach will work and that we are all very much the same. The truth is: one size fits none.

The future of gene editing in humans will involve the use of CRISPR. How we think about the combination of the scientific, ethical, and moral aspects of this technology is paramount to the success or failure of CRISPR in humans. Unfortunately, the current scientific discussion around CRISPR in humans has left ethics trailing behind due to the rapid pace of innovation. New modes of ethics and stakeholder participation are needed to keep pace with rapid scientific advances and provide the necessary policy and ethical frameworks necessary to help CRISPR flourish as an important health care tool to treat human disease. This requires intense interdisciplinary collaboration and discussion between scientists and philosophers, policymakers and legal scholars, and the public.Dr. Michael W. Nestor (a neuroscientist who actively uses CRISPR in pre-clinical research) and Professor Richard Wilson (a philosopher who focuses on anticipatory ethics) set out to develop a new ethical approach considering the use of CRISPR in human targeted therapies. The field of anticipatory ethics is uniquely poised to tackle questions in fast-evolving technical areas where the pace of innovation outstrips traditional philosophical approaches. Furthermore, because of its "e;anticipatory"e; nature, this type of analysis provides the opportunity to look ahead and into the future concerning potential uses of CRISPR in humans, uses that are not currently possible. Nestor and Wilson collaborate both scientifically and philosophically in this book to forecast potential outcomes as the scientific and medical community goes beyond using CRISPR to correct genes that underlie diseases where a single gene is involved. Instead, Nestor and Wilson envision CRISPR in complex, multigenic disorders with a specific focus on the use of CRISPR to edit genes involved in mental traits like IQ or other cognitive characteristics. They argue that the use of CRISPR to modify genes that are potentially important for mental traits represents a particular category for special consideration from scientists, policymakers, the public, and other stakeholders.  Nestor and Wilson explain why using CRISPR to alter mental states is very different from treating a disease like cancer by combining the latest scientific advancements with anticipatory ethics and philosophical phenomenology. Their analysis considers the role that mental states play in personhood and the lived experience-as genes that can change mental/cognitive attributes like IQ have wide-ranging effects on the lived experience in ways that are categorically different from other attributes. This book was written to set a non-exhaustive framework for shared understanding and discussion across disciplines and appeal to scientists and non-scientists alike. This appeal is made inclusively, inviting all stakeholders to engage in active dialogue about the appropriate context for using CRISPR and other gene-editing technologies in humans. It provides policy analysis and recommendations for assuring the most inclusive, equitable, and ethically sound use of CRISPR in humans, concerning its positive potential to treat mental conditions like depression, schizophrenia, Alzheimer's disease, autism, and the potential to induce other cognitive enhancements.

This book provides the latest information on the significance of zebrafish as an ideal model for researching the biomedical field, with references. This book also focused on the evidence of zebrafish as a model in cardiovascular, neurologic, psychiatric and metabolic research. In addition, the book also includes the research carried out on zebrafish in hepatic, renal, ophthalmic, and ENT related areas. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish models including specific research in the area of skin disorders, endocrine diseases, nutritional disorders, gastrointestinal, hematological disorders and cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and its suitability for modeling various diseases, providing a critical resource on the potential attributes of the zebrafish as a pharmacological model. In terms of scope, this book is a useful tool for young researchers, professors and pharmaceutical scientists for understanding the significance of zebrafish as an emerging pharmacological model that can significantly aid in the process of drug discovery and development.

This book provides an overview of statistical concepts and basic methodology for the study of genetics of human traits and diseases. It attempts to provide a step-by-step description of problem identification, study design, methodology of data collection, data exploration, data summarization and visualization, and more advanced analytical methods for inferring genetic underpinnings of human phenotypes. The book provides codes in R programming language for implementation of most of the statistical methods described, which will enable practitioners to perform analysis of data on their own, without having to mold the data to fit the requirements of commercial statistical packages. Useful to anyone engaged in studies to understand and manage good health, the book is a useful guide for sustainable development of humankind. Primarily intended for practicing biologists especially those who carry out quantitative biological research, in particular, human geneticists, the book is also helpful in classroom teaching.

This second edition is fully updated throughout and covers the emerging evidence that indicates that the Gadd45 family of proteins plays a unique and critical role as sensors of stress, including genotoxic, physiological, and oncogenic stress.  It sheds light on the complex cellular stress response, encompassing myriad molecular pathways with a plethora of regulators and effectors.The GADD45 stress response genes encode small (18 kd) nuclear/cytoplasmic proteins.  These genes are rapidly induced by a wide variety of endogenous and exogenous stress stimuli. Despite marked similarities, Gadd45 genes are regulated differentially and exhibit functional diversity.  Gadd45 proteins respond to physiological and oncogenic stress, and are implicated in cell cycle arrest, DNA demethylation and repair, apoptosis, cell survival, genomic stability, and inflammation. The purpose of this book is to provide a comprehensive overview of the unique global role that Gadd45 proteins play as stress sensors and the molecular pathways involved.

Embark on a life-changing journey that will transform the way you think about food, health, and well-being. This comprehensive guide delves deep into the world of superfoods, exploring their fascinating history, diverse nutritional profiles, and countless health benefits. With a friendly and conversational tone, this book makes understanding and incorporating superfoods into your daily life a breeze.Discover a treasure trove of exotic and ancient superfoods that will expand your culinary horizons and provide a delicious, nutrient-rich boost to your favorite dishes. From vibrant fruits and vegetables to hearty grains and pulses, this book showcases a wide variety of superfoods that are sure to inspire and delight.Learn how to create a balanced diet with superfoods, ensuring you get the most out of these powerful nutritional powerhouses. With practical tips on meal planning, preparation, portion sizes, and food swaps, you'll be well-equipped to make healthier choices and enjoy the benefits of a superfood-infused lifestyle.Featuring mouthwatering recipes for breakfast, lunch, dinner, snacks, desserts, and beverages, this book provides endless inspiration for wholesome and delicious meals. Each recipe is carefully crafted to highlight the unique flavors and nutritional benefits of superfoods, making it easy for you to nourish your body and tantalize your taste buds.Gain insight into the latest advances in nutrition research, as well as the role of technology in superfood cultivation and consumption. Explore sustainability and ethical considerations, ensuring that you can make informed choices about the food you eat.Finally, be encouraged to continue exploring and experimenting with superfoods, as you embark on your ongoing journey towards optimal health and well-being. With additional resources, references, and a glossary of terms, this book is the ultimate companion for anyone looking to embrace the incredible power of superfoods.

This SpringerBrief explores unconventional functions of eight different transcription factors and concludes with a discussion of their biological significance and impact, including effects on processes within the cell nucleaus during development and in adult organisms. Chapter One details unconventional functions of the transcription factors GAGA, HP1, Rb, STAT, ATF-2 and NF-kB. Surprisingly, all of these transcription factors can be found in association with heterochromatin as well as euchromatin, and in some cases unconventional functions have been demonstrated for these heterochromatin-associated factors. Chapter Two focuses on the unconventional functions of STAT and HP1 and discusses their roles in the promotion of longevity, and in protection from cancer and DNA damage. Chapter Three explores the biological significance of the findings presented in the first two chapters and considers how global changes in the epigenome brought about by factors such as STAT and HP1 might affect processes within the cell nucleus during development and in adult organisms. This succinct yet thorough SpringerBrief is essential for researchers studying epigenetics, and to instructors of the subject. It should also appeal to people interested in the control of gene transcription and other processes in the cell nucleus, and to those interested in development.

Epigenetics in Human Disease, Third Edition examines the diseases and conditions on which we have advanced knowledge of epigenetic mechanisms, such as cancer, autoimmune disorders, aging, metabolic disorders, neurobiological disorders and cardiovascular disease. From molecular mechanisms and epigenetic technology to clinical translation of recent research, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic interventions for epigenetic-based disorders, with an emphasis throughout on understanding and application of key concepts in new research and clinical practice. Fully revised and up-to-date, this Third Edition discusses topics of current interest in epigenetic disease research, including stem cell epigenetic therapy, bioinformatic analysis of NGS data, epigenetic mechanisms of imprinting disorders, microRNA in cancer, epigenetic approaches to control obesity, epigenetics and airway disease, and epigenetics in cardiovascular disease. Further sections explore online epigenetic tools and datasets; early-life programming of epigenetics in age-related diseases; the epigenetics of addiction and suicide, and epigenetic approaches to regulating and preventing diabetes, cardiac disease, allergic disorders, Alzheimer's disease, respiratory diseases, and many other human maladies. In addition, each chapter now includes chapter summaries, definitions, and vibrant imagery and figures to reinforce understanding, as well as step-by-step methods and disease research case studies.

This book illustrates the role of randomness and noise in living organisms. Traditionally, the randomness and noise have been used in understanding signal processing in communications. This book is divided into two sections, the first of which introduces readers to the various types and sources of noise and the constructive role of noise in non-linear dynamics. It also analyses the importance of randomness and noise in a variety of science and engineering applications. In turn, the second section discusses in detail the functional role of noise in biological processes for example, in case of brain function at the level of ion channel, synaptic level and even at cognitive level. These are described in various chapters. One of the challenging issue finding the neuronal correlates of various meditative states is to understand how brain controls various types of noise so as to reach a state of synchronized oscillatory state of the brain corresponding to the state of Samadhi. This is described in details in one chapter called Noise, Coherence and meditation. The concept of noise and the role of randomness in living organism raise lot of controversy for last few decades. This is discussed in a separate chapter. Finally, the epistemic and ontic nature of randomness as discussed in physical science are investigated in the context of living organism.

This book discusses principles, methodology, and applications of microbiological laboratory techniques . It lays special emphasis on the use of various automated machines that are essential for medical microbiology and diagnostic labs. The book contains eleven major chapters. The first chapter describes the good lab practices which should be followed by the students in all biological, chemistry or microbiology laboratories. The next chapter describes manual and automated characterization of antibiotic resistant microbes, followed by a chapter on genomics based tools and techniques that are integral to research. Further chapters deal with other important techniques like immunology based techniques, spectrophotometry and its various types, MALDI-TOFF and microarrays, each with illustrations and detailed description of the protocols and applications. The book also gives certain important guidelines to the students about the planning the experiment and interpreting results.The book is highly informative and provides latest techniques. It is a handy compendium for graduate and post graduate students, as well as more advanced researchers.

This book provides a detailed overview of the latest developments in the rapidly evolving specialty of Neuro-Oncology arranged in approximately 500 questions arranged in multiple-choice and matching formats. It features insight into the latest World Health Organization classification of central nervous system tumors and molecular genetics with information on how to apply a range of intraoperative adjuncts. Guidance on the latest therapeutic techniques such as stem-cell and immunotherapy in clinical practice is also discussed. To assist the reader in developing a deep understanding of the topics, the questions in all chapters are accompanied by relevant explanations to reinforce the key points covered.Neuro-Oncology Explained Through Multiple Choice Questions is a practical and up-to-date resource on how to diagnose, treat and manage a variety of disorders related to neuro-oncology. Its clear, easy-to-follow format and recognition of critical concepts make it an important resource for neurosurgical and oncology trainees preparing for certification examinations and the more experienced practitioners seeking an overview of the latest developments within the field.Additional questions via app: Download the Springer Nature Flashcards app for free and use exclusive additional material to test your knowledge.

This book intends to investigate the broad spectrum of genetic changes in immunological processes involved in cutaneous diseases. One of the main goals of immunogenetic studies is finding susceptibility genes for complex diseases. This can provide an insight into the pathogenesis of the condition in a way that is not easily achievable through other kinds of studies. Thus they are a rational initial step for generating hypotheses about disease pathogenesis. This may especially benefit dermatology, a field notorious for having too many diseases with unknown etiologies.Immunogenetic investigations have made targeted treatment strategies possible for diseases such as psoriasis and pemphigus. Even though these strategies have revolutionized the management of chronic dermatological conditions such as psoriasis, still there are a lot of unanswered questions. For instance, psoriasis patients respond very differently to each of the commercially available biological agents. This diversity could be partially explained by the differences in the sets of genes responsible for disease induction in each individual. Thus whole genome sequencing strategies, if feasible at individual levels, might help in tailoring these targeted treatments based on specific genetic backgrounds.Our intention in preparing this book was to explore the broad spectrum of the genetic aspects of immunological processes involved in cutaneous diseases. We have tried to cover most areas of dermatology where enough studies were available to gather a chapter. Still, there is a substantial lack of knowledge on the immunogenetics of many dermatological conditions. We hope that this book would encourage the investigators to fill these gaps of knowledge.

This book presents the latest knowledge and the most recent research results on glycobiology of innate immunology. Innate immunity is the crucial part of the immunological defense system that exerts their distinct functions through binding to certain functional glycoproteins. They play a role in various human diseases and also function against microbial invaders and self-associated molecular patterns. Co-regulated expression of glycan-binding is associated with many biological components such as cellular oncotransformation, phenotype change, neuronal or embryonic development, regulation of cell division, cell-cell interaction, cell attachment, adhesion, and motility, and intracellular signaling via protein-carbohydrate or carbohydrate-carbohydrate interactions.This book opens by providing the key background on glycans in innate immunity and its mechanisms behind the Dendritic cell interactions during infection and inflammation are examined in depth, and the concluding chapter is devoted to signaling tumor immunotherapy. Up-to-date information is then presented on all aspects of glycan structure-recognizing signaling. The book should assist in the further development of new strategies against emerging infectious agents and intractable diseases.

This book's aim is to study the mathematical and computational models to analyze the progress, prognosis, prevention, and panacea of breast cancer. The book discusses application of Markov chains and transient mappings, Charlie-Simpson numerical algorithm, models represented by nonlinear reaction-diffusion-type partial differential equations, and related techniques. The book also attempts to design mathematical model of targeted strategic treatments by using Skilled Killer Drugs (SKD1 and SKD2) to suggest the improvisation of future cancer treatments. Both graduate students and researchers of computational biology and oncologists will benefit by studying this book. Researchers of cancer studies and biological sciences will also find this work helpful.

This book brings together what is currently known in terms of basic research in the field of long noncoding RNAs (lncRNAs) and builds on this to delve more deeply in the specific roles that lncRNAs are playing during inflammation. The book provides readers with basic knowledge on lncRNAs: from understanding the complexity of the transcriptome, conservation, structure and the tools used to investigate these aspects, to how we use this information to study lncRNAs in a specific biological context. The volume covers the emerging roles of lncRNAs in the initial stages of inflammation as well as their roles in specific inflammatory diseases including arthritis, lupus, diabetes and cardiovascular disease. The book also shows the emerging interest in using lncRNAs as a therapeutic target and how this could impact our ability to diagnose and treat inflammatory diseases in the future.

This book explores the interrelationship of genetics, the environment, or both, in the causation of three neurodevelopmental disorders: autism/autism spectrum disorder (ASD), fetal alcohol spectrum disorder (FASD), and cerebral palsy (CP). It links common clinical problems in developmental pediatrics and pediatric neurology to current concepts and translational research advances in developmental neurosciences, medical genetics, and related disciplines. The first section of the book provides a comprehensive and up-to-date overview of development of the brain, including topics such as neuronal stem cells, epigenetics, and the influence of the prenatal environment. The next three sections analyze the epidemiology, diagnosis, interventions, and controversies and research directions associated with each of the three neurodevelopmental disorders. It also examines co-morbidities common to all three disorders, such as disturbed sleep, seizures, behavioral disorders, and pain. It concludes by highlighting the impact of ASD, FASD, and CP on family dynamics and provides tools and resources based on foundational concepts such as neuroethics, bioinformatics, community engagement, and advocacy. Learning objectives, key points, clinical vignettes, and multiple choice questions are incorporated throughout the book. With its comprehensive treatment of disease mechanisms, genetics, and pathophysiology associated with these disorders and its discussion of potential therapies and novel treatments, Neurodevelopmental Pediatrics: Genetic and Environmental Influences is an essential resource for developmental pediatricians, child neurologists, fellows, residents and graduate students.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases.The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring.The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

This book highlights recent research investigating psychological and neural mechanisms contributing to dysfunctional cognition in people with schizophrenia. The work on cognition in schizophrenia from the past 20 years is highlighted, and emphasis throughout the book is placed on utilizing the Research Domain Criterion framework. Thus, the book also covers animals work relevant to schizophrenia that assesses behaviors utilizing the same framework, enabling mechanistic studies and highlighting potential biomarkers of function. The book also includes important areas of research in the field of cognitive function in schizophrenia that have received less attention, such as cognitive side-effects of current treatments and olfactory-based cognition. Altogether, the book provides a translational perspective of the most-up-to-date research on cognition in schizophrenia to-date, but with identification of novel directions for research initiatives..

This volume contains a comprehensive collection of laboratory protocols used by researchers to analyze varied aspects of non-alcoholic steatohepatitis (NASH). The chapters in this book cover topics such as methods for histological diagnosis of NASH; the purpose of generating an in vivo NASH model; protocols for isolating hepatocytes and Kupffer cells, bone marrow derived macrophages, and adipocytes; techniques to develop human pluripotent stem cells-derived liver organoids; single-cell and RNA-sequencing; and a description of how to extract exosomes and exosomal miRNAs from mesenchymal stem cells. 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 practical, Non-Alcoholic Steatohepatitis: Methodsand Protocols is a valuable resource for new and experiences investigators studying NASH, and serves as an essential reference on NASH for basic and clinical researchers and students.