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For evolutionary biologists as well as for human and cancer geneticist Copy number variants (CNVs) are an important source of human genomic diversity. They impact upon a diverse array of specialist fields such as evolutionary biology, predisposition to inherited disease (monogenic and complex), cancer genetics, inter-individual variation in diverse human populations, and somatic mosaicism. The important advances in CNV research that have been made over the last few years have greatly increased the awareness of the extent to which CNVs contribute to the diversity of human phenotypes, including `single gene defects' and genomic disorders. Indeed, CNVs are now being widely investigated in genome-wide association studies to determine their influence on human disease susceptibility. This special issue comprises a unique collection of review and original articles, which together reflect the current knowledge of CNVs while posing key questions about the structure, function and evolution of this key type of polymorphic variation in the human genome. Thus it is an invaluable source of information for evolutionary biologists as well as for human and cancer geneticists.
Supported by the principles of developmental psychology and applied behavior analysis, ESDM's intensive teaching interventions are delivered within play-based, relationship-focused routines. The manual provides structured, hands-on strategies for working with very young children in individual and group settings to promote development in such key domains as imitation; communication; social, cognitive, and motor skills; adaptive behavior; and play. --from publisher description
With the rapid development of biotechnologies, single-cell sequencing has become an important tool for understanding the molecular mechanisms of diseases, defining cellular heterogeneities and characteristics, and identifying intercellular communications and single-cell-based biomarkers. Providing a clear overview of the clinical applications, the book presents state-of-the-art information on immune cell function, cancer progression, infection, and inflammation gained from single-cell DNA or RNA sequencing. Furthermore, it explores the role of target gene methylation in the pathogenesis of diseases, with a focus on respiratory cancer, infection and chronic diseases. As such it is a valuable resource for clinical researchers and physicians, allowing them to refresh their knowledge and improve early diagnosis and therapy for patients.
Computational Biomedicine unifies the different strands of a broad-ranging subject to demonstrate the power of a tool that has the potential to revolutionise our understanding of the human body, and the therapeutic strategies available to maintain and protect it.
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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries—such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics—latest technologies, and new diagnoses they are enabling. Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions. Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies Full-color text, illustrations, updated line diagrams, and clinical photos End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations USMLE-style and multiple choice questions Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions New chapter on Epigenetics Clearer and more precise terminology, in response to contemporary and evolving guidelines New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management.
Understanding the impact of diet, exercise, genetics, and hormones on the risk and development of Alzheimer’s and other neurogenerative diseases Diet is widely known to impact on neurological function. Nevertheless, academic texts discussing this relationship are relatively few in number. This book therefore fills an important gap in the current literature. Opening with an overview of neurodegenerative diseases, particularly Alzheimer’s disease, the text then focuses on explaining the means by which glycemic control and lipid metabolism – and associated nutritional and lifestyle variables – may factor into such disorders’ prevention and treatment. An international group of experts in the fields of food science and neurodegeneration have contributed chapters that examine Alzheimer’s disease within a broad range of contexts. Offering dietary, genetic, and hormonal perspectives, the authors explore topics ranging from sugar consumption to digestive fermentation, and Alzheimer’s disease animal models to the cognition-enhancing effects of physical exercise. Also included are overviews of the latest research into current and developing methods of treatment and diagnosis, as well as differential diagnostics. This groundbreaking book: Explores how glucose metabolism, insulin resistance, lipid metabolism, and high intake of refined carbohydrates are linked to Alzheimer's disease Discusses how genetic makeup can impact risk of Alzheimer’s and Parkinson’s disease Examines cognitive changes in neurodegeneration, lists current tests for determining cognitive impairment, and provides information concerning differential diagnosis Discusses potential advantages of increasing antioxidant and micronutrient intake Reviews hormonal influences on neurodegeneration Examines the links between protein intake and Alzheimer’s disease. Neurodegeneration and Alzheimer's Disease is an essential resource for researchers, medical practitioners, dietitians, and students with an interest in neurological diseases and their diagnosis and risk factors, as well as diet-related conditions such as diabetes and obesity. Lifestyle and diet influence neurodegeneration risk, and a better understanding of this evidence amongst health professionals will hopefully lead to greater public awareness of how to reduce the likelihood of these widespread conditions.