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Unravelling Complexities in Genetics and Genomics by Moyra Smith Pdf
Unravelling Complexities in Genetics and Genomics: Impact on Diagnosis Counseling and Management reviews recent advances in defining genetic and genomic factors that play important roles in diseases in humans. It includes discussions on new technologies in DNA and RNA sequencing, genome analysis, and bioinformatics applied to the study of patients with specific disorders and to normal populations, and illustrates how modern molecular techniques can improve diagnoses and enable the design of specific targeted therapies and methods of prevention. Additional emphasis is placed on the genetic variants and genomic risk factors related to the development of complex common disorders, including neurobehavioral and neurocognitive disorders in children and adults and late onset disorders in adults, including atherosclerosis, type 2 diabetes, cancer, and neurodegenerative disorders. Physicians, nurses, genetic counselors, graduate students in genetics and genomics will find this book a valuable read. Contents:Expanding Insights into Genes and ExpressionGenomic Integrity and Relevance to DiseaseEpigenetics and EpigenomicsProteins, Proteomics, Protein Folding and ProteostasisGenotype–Phenotype Correlations and ComplexitiesImmune SystemLipids, Atherosclerosis, Metabolic Syndromes and DiabetesEarly-Onset Neurocognitive and Neurobehavioral DisordersIntegrating Advances in Neurobiology and Genetics into PsychiatryNeurodegenerative DiseasesCancerEpilogue Readership: Physicians, nurses, genetic counselors, graduate students in genetics and genomics.
Progress, Pioneers And Process: Studies In Physiology And Genetic Medicine by Moyra Smith Pdf
This book describes the growth of information on specific aspects of physiology and pathology of particular disorders and provides an analysis of the processes and contributions of pioneers to discovery. It begins primarily in the second half of the 19th century and explores specific contributions of researchers through to the 20th and 21st centuries. The book revisits specific aspects of physiology, biochemistry and molecular biology relevant to genetic medicine. In addition, it provides a review of specific human disorders that the author has encountered during her career, as well as an analysis of the progress in determining disease mechanisms and improving therapies.The chapters in this book provide insights into the processes of research and discovery, as well as how elucidation of disease mechanisms translates into research in diagnostics and treatments.The book provides historical information and current information obtained from recent journals and presentations, on each of the topics discussed.
Precision Medicine for Investigators, Practitioners and Providers by Joel Faintuch,Salomao Faintuch Pdf
Precision Medicine for Investigators, Practitioners and Providers addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included. Provides a three-pronged approach to precision medicine that is focused on investigators, practitioners and healthcare providers Covers disease groups and ancillary information about techniques, resources and consequences Follows a structured blueprint, ensuring essential chapters items are not overlooked
Author : Kevin J. Mitchell Publisher : John Wiley & Sons Page : 368 pages File Size : 41,8 Mb Release : 2015-07-21 Category : Medical ISBN : 9781118524992
The Genetics of Neurodevelopmental Disorders by Kevin J. Mitchell Pdf
Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.
Author : Bruce R. Korf,Mira B. Irons Publisher : John Wiley & Sons Page : 280 pages File Size : 50,9 Mb Release : 2012-11-19 Category : Medical ISBN : 9781118537664
Human Genetics and Genomics by Bruce R. Korf,Mira B. Irons Pdf
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Plant Biology and Biotechnology by Bir Bahadur,Manchikatla Venkat Rajam,Leela Sahijram,K.V. Krishnamurthy Pdf
This volume offers a much-needed compilation of essential reviews on diverse aspects of plant biology, written by eminent botanists. These reviews effectively cover a wide range of aspects of plant biology that have contemporary relevance. At the same time they integrate classical morphology with molecular biology, physiology with pattern formation, growth with genomics, development with morphogenesis, and classical crop-improvement techniques with modern breeding methodologies. Classical botany has been transformed into cutting-edge plant biology, thus providing the theoretical basis for plant biotechnology. It goes without saying that biotechnology has emerged as a powerful discipline of Biology in the last three decades. Biotechnological tools, techniques and information, used in combination with appropriate planning and execution, have already contributed significantly to economic growth and development. It is estimated that in the next decade or two, products and processes made possible by biotechnology will account for over 60% of worldwide commerce and output. There is, therefore, a need to arrive at a general understanding and common approach to issues related to the nature, possession, conservation and use of biodiversity, as it provides the raw material for biotechnology. More than 90% of the total requirements for the biotechnology industry are contributed by plants and microbes, in terms of goods and services. There are however substantial plant and microbial resources that are waiting for biotechnological exploitation in the near future through effective bioprospection. In order to exploit plants and microbes for their useful products and processes, we need to first understand their basic structure, organization, growth and development, cellular process and overall biology. We also need to identify and develop strategies to improve the productivity of plants. In view of the above, in this two-volume book on plant biology and biotechnology, the first volume is devoted to various aspects of plant biology and crop improvement. It includes 33 chapters contributed by 50 researchers, each of which is an expert in his/her own field of research. The book begins with an introductory chapter that gives a lucid account on the past, present and future of plant biology, thereby providing a perfect historical foundation for the chapters that follow. Four chapters are devoted to details on the structural and developmental aspects of the structures of plants and their principal organs. These chapters provide the molecular biological basis for the regulation of morphogenesis of the form of plants and their organs, involving control at the cellular and tissue levels. Details on biodiversity, the basic raw material for biotechnology, are discussed in a separate chapter, in which emphasis is placed on the genetic, species and ecosystem diversities and their conservation. Since fungi and other microbes form an important component of the overall biodiversity, special attention is paid to the treatment of fungi and other microbes in this volume. Four chapters respectively deal with an overview of fungi, arbuscularmycorrhizae and their relation to the sustenance of plant wealth, diversity and practical applications of mushrooms, and lichens (associated with a photobiont). Microbial endosymbionts associated with plants and phosphate solubilizing microbes in the rhizosphere of plants are exhaustively treated in two separate chapters. The reproductive strategies of bryophytes and an overview on Cycads form the subject matter of another two chapters, thus fulfilling the need to deal with the non-flowering Embryophyte group of plants. Angiosperms, the most important group of plants from a biotechnological perspective, are examined exhaustively in this volume. The chapters on angiosperms provide an overview and cover the genetic basis of flowers development, pre-and post-fertilization reproductive growth and development, seed biology and technology, plant secondary metabolism, photosynthesis, and plant volatile chemicals. A special effort has been made to include important topics on crop improvement in this volume. The importance of pollination services, apomixes, male sterility, induced mutations, polyploidy and climate changes is discussed, each in a separate chapter. Microalgalnutra-pharmaceuticals, vegetable-oil-based nutraceuticals and the importance of alien crop resources and underutilized crops for food and nutritional security form the topics of three other chapters in this volume. There is also a special chapter on the applications of remote sensing in the plant sciences, which also provides information on biodiversity distribution. The editors of this volume believe the wide range of basic topics on plant biology that have great relevance in biotechnology covered will be of great interest to students, researchers and teachers of botany and plant biotechnology alike.
Genetics and Genomics of Eye Disease by Xiaoyi Raymond Gao Pdf
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
Author : G. Tripathi Publisher : I. K. International Pvt Ltd Page : 1388 pages File Size : 49,5 Mb Release : 2010-03 Category : Medical ISBN : 9788188237852
Cellular and Biochemical Science by G. Tripathi Pdf
The fundamental aim underlying Cellular and Biochemical Sciences is to emphasize diversified topics of current interest to postgraduate students pursuing different courses in the area of biological sciences including Zoology, Botany, Biochemistry and Biotechnology. The text is also relevant to the students of Life Sciences, Biosciences, Cell Biology, Bioengineering and Pharmacology. A total of 58 topics have been incorporated in the book and some of the topics are rarely found in other books of Biology. New information has been introduced which updates existing knowledge and enables the book to justify its claim as the most comprehensive text in the sphere of cellular and biochemical sciences at the postgraduate and competitive examination levels. Each and every chapter has been designed in lucid and readable manner. There are references, suggested readings, long questions and objective questions at the end of chapters for revision of topics.
AI and IoT-Based Technologies for Precision Medicine by Khang, Alex Pdf
In the post-COVID-19 healthcare landscape, the demand for smart healthcare solutions and precision medicine systems has grown significantly. To address these challenges, the book AI and IoT-Based Technologies for Precision Medicine provides a comprehensive resource for doctors, researchers, engineers, and students. By leveraging AI and IoT technologies, the book equips healthcare professionals with advanced tools and methodologies for predictive disease analysis, informed decision-making, and other aspects of precision medicine. This resource bridges the gap between theory and practice, exploring concepts like machine learning, deep learning, computer vision, AI-integrated applications, IoT-based technologies, healthcare data analytics, and biotechnology applications. Through this, the book empowers healthcare practitioners to pioneer innovative solutions that enhance efficiency, accuracy, and security in medical practices. AI and IoT-Based Technologies for Precision Medicine not only offer insights into the potential of AI-powered applications and IoT-equipped techniques in smart healthcare but also foster collaboration among healthcare scholars and professionals. This authoritative guide encourages knowledge sharing and collaboration to harness the transformative potential of AI and IoT, leading to revolutionary advancements in medical practices and healthcare services. With this book as a guide, readers can navigate the evolving landscape of high-tech medicine, taking confident steps toward a cutting-edge and precise medical ecosystem.
Crop Systems Biology by Xinyou Yin,Paul C. Struik Pdf
The sequencing of genomes has been completed for an increasing number of crop species, and researchers have now succeeded in isolating and characterising many important QTLs/genes. High expectations from genomics, however, are waving back toward the recognition that crop physiology is also important for realistic improvement of crop productivity. Complex processes and networks along various hierarchical levels of crop growth and development can be thoroughly understood with the help of their mathematical description – modelling. The further practical application of these understandings also requires quantitative predictions. In order to better support design, engineering and breeding for new crops and cultivars for improving agricultural production under global warming and climate change, there is an increasing call for an interdisciplinary research approach, which combines modern genetics and genomics, traditional physiology and biochemistry, and advanced bioinformatics and modelling. Such an interdisciplinary approach has been practised in various research groups for many years. However, it does not seem to be fully covered in the format of book publications. We want to initiate a book project on crop systems biology - narrowing the gaps between genotypes and phenotypes and the gaps between crop modelling and genetics/genomics, for publication in 2013/2014. The book will be meant for those scientists and graduate students from fundamental plant biology and applied crop science who are interested in bridging the gap between these two fields. We have invited a group of scientists (who have very good track records in publishing excellent papers in this field or in a closely related area) to contribute chapters to this new book, and they have agreed to do so.
Author : Dhavendra Kumar,Charis Eng Publisher : Oxford Monographs on Medical G Page : 853 pages File Size : 45,5 Mb Release : 2014-10-15 Category : Medical ISBN : 9780199896028
Life Histories of Genetic Disease by Andrew J. Hogan Pdf
A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Genomics of Rare Diseases by Claudia Gonzaga-Jauregui,James R. Lupski Pdf
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians