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Mutations in the BRCA1/2 genes are the most common cause of hereditary breast and ovarian cancer (HBOC), and HBOC is an autosomal dominant cancer predisposition syndrome. Individuals with HBOC have a high risk for breast and ovarian cancers and a moderate risk for other cancers, such as prostate, pancreatic, melanoma, and fallopian tube cancers. The goal of screening individuals at high risk of familial cancer is either prevention (such as a change in lifestyle or diet) or early detection of cancer. The identification of BRCA mutation carriers is important, since increased surveillance, drug therapy, and prophylactic surgery can reduce cancer-related morbidity and mortality. In recent years, there has been substantial development in BRCA-associated hereditary breast and/or breast-ovarian cancer research and its clinical applications. In this context, this book consolidates the recent advances in BRCA-related cancer biology and therapeutics, covering a wide spectrum of interrelated topics. Chapters cover a wide range of topics, such as BRCA discovery, BRCA structure and function, BRCA-associated cancers, BRCA genetic testing and counselling, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.
Breast --- Cancer --- Genetic aspects.
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An in-depth look at genetic alteration in the natural world and the oppositions to it, seen through the case study of a gene drive for malaria. May We Make the World is an engaging reflection on the history, nature, goal, and meaning of using a new technological idea -- CRISPR-based genetic engineering -- to alter the genome of the mosquito that carries malaria. This technology, called a "gene drive," can alter the sex ratio in Anopheles gambiae mosquitoes, the key vector for the deadliest form of malaria, falciparum. Falciparum kills 400,000 people a year, and among those, largely the poorest children in the world. In her sobering examination of the issue, Laurie Zoloth considers the leading ethical arguments for and against gene drives, explores the regulatory efforts that have emerged long in advance of the science, and considers the philosophical questions raised by the struggle to eliminate malaria. The development of a gene drive for malaria will have far-reaching implications, for it represents the first use of genetic engineering of the natural world and the first creation of a genetic variant intended to spread in the African wild, beyond human control. Drawing on two decades of work, Zoloth brilliantly argues that we can understand the complex moral issues at stake only by carefully reflecting on the science, the nature of the local and global discourse about genetic engineering, and the long history of malaria, which -- as it transformed from a worldwide disease to a tropical one -- reshaped the world as we know it.
Gene drives. --- Malaria --- Genetic aspects.
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Neurogenetics. --- Nervous system --- Genetics --- Neurosciences --- Genetic aspects
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Mutations in the BRCA1/2 genes are the most common cause of hereditary breast and ovarian cancer (HBOC), and HBOC is an autosomal dominant cancer predisposition syndrome. Individuals with HBOC have a high risk for breast and ovarian cancers and a moderate risk for other cancers, such as prostate, pancreatic, melanoma, and fallopian tube cancers. The goal of screening individuals at high risk of familial cancer is either prevention (such as a change in lifestyle or diet) or early detection of cancer. The identification of BRCA mutation carriers is important, since increased surveillance, drug therapy, and prophylactic surgery can reduce cancer-related morbidity and mortality. In recent years, there has been substantial development in BRCA-associated hereditary breast and/or breast-ovarian cancer research and its clinical applications. In this context, this book consolidates the recent advances in BRCA-related cancer biology and therapeutics, covering a wide spectrum of interrelated topics. Chapters cover a wide range of topics, such as BRCA discovery, BRCA structure and function, BRCA-associated cancers, BRCA genetic testing and counselling, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.
Ovaries --- Breast --- Cancer. --- Cancer --- Genetic aspects.
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Cancer --- Epigenetics. --- Genetic aspects. --- Neoplasms --- Epigenomics. --- Epigenesis, Genetic. --- genetics.
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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.
Developmental disabilities Genetic aspects. --- Pediatric neurology. --- Pediatric neuropsychology. --- Child neuropsychology --- Developmental neuropsychology --- Neuropsychology --- Pediatric neurology --- Nervous system --- Neurology --- Diseases --- Developmental disabilities --- Genetic aspects.
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Many heterogeneous causes (e.g., metabolic, inflammatory, autoimmune, vascular, and renal diseases, and even drugs), collectively grouped as secondary causes of osteoporosis, may lead to bone loss or damage to architecture through a number of mechanisms. Although these secondary causes of osteoporosis are the most frequently observed causes of unexpected bone loss, they can only be diagnosed via a high degree of suspicion and clinical experience and by performing the appropriate investigations. In inflammatory disorders such as rheumatoid arthritis or chronic inflammatory bowel diseases, as well as vascular diseases, T-cell activation, and consequently pro-inflammatory cascades, trigger the increased expression of T-cell-derived RANKL. In addition, a new biomarker signature of bone-related miRNAs is promising in certain clinical features. Glucocorticoids, often used to control disease activity, decrease the number and function of osteoblasts and inhibit OPG expression. The ubiquitous occurrence of disease-related secondary changes in bone metabolism implies that numerous medical disciplines need to interact. Screening for secondary causes of osteoporosis and the search for new modes of action should present a substantial aspect of osteoporosis manageme.
Bones --- Osteoporosis --- Metabolism --- Disorders. --- Genetic aspects. --- Metabolic bone disease --- Vitamin D deficiency --- Diseases
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Epigenetic Cancer Therapy unites issues central to a translational audience actively seeking to understand the topic. It is ideal for cancer specialists, including oncologists and clinicians, but also provides valuable information for researchers, academics, students, governments, and decision-makers in the healthcare sector. The text covers the basic background of the epigenome, aberrant epigenetics, and its potential as a target for cancer therapy, and includes individual chapters on the state of epigenome knowledge in specific cancers (including lung, breast, prostate, liver). The book encompasses both large-scale intergovernmental initiatives as well as recent findings across cancer stem cells, rational drug design, clinical trials, and chemopreventative strategies. As a whole, the work articulates and raises the profile of epigenetics as a therapeutic option in the future management of cancer. Concisely summarizes the therapeutic implications of recent, large-scale epigenome studies, including the cancer epigenome atlas Discusses targeted isoform specific versus pan-specific inhibitors, a rational drug design approach to epigenetics relevant to pharmacoepigenetic clinical applications Covers new findings in the interplay between cancer stem cells (CSCs) and drug resistance, demonstrating that epigenetic machinery is a candidate target for the eradication of these CSCs.
Cancer --- Cancer genetics --- Cancer genes --- Genetic aspects. --- Epigenesis. --- Neoplasms --- Epigenesis, Genetic --- Genetic Therapy --- Treatment. --- genetics --- therapy
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"This volume examines the state of psychiatric genetics and charts a path forward for further discovery and translation"--
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In the years following FDA approval of direct-to-consumer, genetic-health-risk testing, millions of people in the United States have sent their DNA to companies to receive personal genetic health risk information without physician or other learned medical professional involvement. In Personal Genome Medicine, Michael J. Malinowski examines the ethical, legal, and social implications of this development. Drawing from the past and present of medicine in the U.S., Malinowski applies law, policy, public and private sector practices, and governing norms to analyze the commercial personal genome sequencing and testing sectors and to assess their impact on the future of U.S. medicine. Written in relatable and accessible language, the book also proposes regulatory reforms for government and medical professionals that will enable technological advancements while maintaining personal and public health standards.
Medical genetics --- Law and legislation --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects
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