Medicinsk genetik

This second edition volume expands on the previous edition with updated techniques and discussions on topics such as gene suppression, editing, and reprogramming; cardiac gene therapy vectors and promoters; cardiac gene delivery methods; pulmonary hypertension; and patient screening and measuring the efficacy of cardiac gene therapy. 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, Cardiac Gene Therapy: Methods and Protocols, Second Edition is a valuable tool for researchers in cardiology who are conducting gene therapy research. This book will lead to further advancements and successful clinical translations in the field. Chapter "e;Direct Reprogramming of Adult Human Cardiac Fibroblasts into Induced Cardiomyocytes Using miRcombo"e; is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

This book describes the biology, diagnosis, treatment and the latest research on anti-sperm antibody (ASA) and anti-zona pellucida antibody (AZPA) produced in some infertile patients. It summarizes ASA in both men and women, and presents new research to serve as a guideline for medical treatment, which currently varies considerably. It also discusses the recently identified target antigens of these antibodies, and the latest immunocontraceptive development projects. The book features chapters on AZPA explaining the biological structure and function of the zona pellucida, and describing the abnormality and the antibody. It also provides insights into their evolution, presenting the differences in taxonomy, mammalian physiological functions and the morphologically and immunologically unique human zona pellucida. Gamete Immunology is a valuable resource for researchers, and postdocs who are curious about new research on ASA and AZPA. It offers clinicians and embryologists who are interested in gamete immunology diverse perspectives as well as the basis for new ideas to treat the antibodies and develop contraceptive vaccinogens.

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.

This fourth volume in the series Advances in Vision Research describes importance advancements in basics to translational research, including new therapeutics for genetic eye diseases. Recent US FDA approval of the first gene therapy for an inherited retinal disease, due to a mutation in the RPE65 gene, has led to an upsurge in translational eye research. The coverage in this volume includes corneal diseases, myopia, cataract, glaucoma, inherited retinal diseases, inherited optic neuropathy, and other genetic eye diseases. New developments such as the application of artificial intelligence in translational eye research are also discussed. All chapters are written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume IV will be a major resource for all researchers, clinicians, clinical researchers, andallied eye health professionals with an interest in eye diseases around the globe. The first two volumes in the series described the state of the art in genetic eye research in Asia and the Pacific while the third focused on progress in Europe and the United States.

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 biography provides an understanding of William Bateson as well as a reconciliation of diverging views (e.g. the hierarchical thinking of Gould and the genocentrism of George Williams and Richard Dawkins). Evolutionists may thus, at long last, present a unified front to their creationist opponents. The pressing need for this text is apparent from the high percentages reported not to believe in evolution and the growth of the so-called "e;intelligent design"e; movement.

This informative book discusses the latest research on the risk factors and therapeutics in dementia. WHO calls dementia a public health priority. Dementia manifests as a group of symptoms associated with decline in memory or other thinking skills and is severe enough to reduce a person's ability to perform everyday activities. It occurs frequently among elderly people, but it is not necessarily part of the normal aging process. The book has been divided into two broad sections. The first section reviews the risk factors involved in developing dementia, including various medical conditions, lifestyle choices, as well as genetics. The latter section describes various therapeutic interventions in dementia. Although there is no known cure for dementia, this book underlines the current treatment strategies that could momentarily reduce the symptoms and improve the quality of life of the patients. This book highlights the global effort to find better ways to halt the progression of dementia and develop novel therapeutic strategies.  The book would be an interesting read for advanced graduate students and researchers working in the field of neuroscience, genetics, and medicine. It will generate good interest to neurologists, psychiatrists, geriatricians, cardiologists, internal medicine practitioners, epidemiologist, and public health workers.

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. 

The purpose of this book is to highlight some of latest developments and applications of CRISPR, RNA, and DNA to treat diseases ranging from cancers to cardiovascular and degenerative disorders. It also features innovations of the delivery methods for nucleic acids ranging from nanodevices made from DNA and pseudo amino acids to viral vectors. This is an ideal book for academics, clinicians, and students interested in gene therapy.

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 book provides a concise overview of currently applicable regulatory frameworks of states which are among the world leaders in research and development (R&D) of cell and gene therapies. Developments in genome editing are expected to lead to new possibilities for the treatment of hereditary diseases in humans. The treatment of such often severe but hitherto uncurable diseases can be based on genome-edited induced pluripotent stem cells (iPS cells). Such treatments constitute combined cell/gene therapies. These therapies need to be governed by a regulatory framework which ensures quality, safety, and efficacy of the relevant therapeutic products. On the other hand, such regulations may retard product approval and impede R&D. Accordingly, national regulations for therapies based on genome-edited iPS cells are an important and, as the case may be, decisive factor for both researchers and industry regarding their decision where to locate their R&D activities. Therefore, regulatory frameworks impact significantly on the competitiveness of states and their economies. This is why a comparative analysis of laws and regulations of different countries matters. Such a comparative legal analysis provides an important insight into regulatory concepts which, in turn, may inspire adjustments of, or amendments to, domestic legal regimes. For this purpose, experts present country reports on France, Germany, Japan, South Korea, Switzerland, and the USA. The reports on France and Germany also refer to the parameters and implications arising from pertinent EU law. This contributed volume is aimed at researchers, but also at, e.g., legal scholars, lawmakers, regulators, and political decision makers.

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.

The discovery of noncoding RNAs (ncRNAs) is changed our understanding of genome, transcriptome, and interactions with proteome in a cell. Since the discovery of the first microRNA (miRNA) called lin-4 on Caenorhabditis elegans in 1993, our understanding of gene expression has deepened. Further miRNA discoveries have led to the investigation of new ncRNA families and their function, biogenesis, and interactions with other types of molecules. Recent developments in bioinformatics, public databases, sequencing technologies, and biochemical techniques have increased our understanding of the biogenesis, function, and interactions of ncRNAs. This book provides an overview of current ncRNA research dealing with human diseases and cancer and plant miRNAs.