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Copy Number Variation In Rare Disorders
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Book Synopsis Genomic Disorders by : James R. Lupski
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Pharmacoepigenetics by : Ramón Cacabelos
Download or read book Pharmacoepigenetics written by Ramón Cacabelos and published by Academic Press. This book was released on 2019-06-04 with total page 986 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. - Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development - Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry - Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety - Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine
Book Synopsis Clinical Bioinformatics by : Ronald Trent
Download or read book Clinical Bioinformatics written by Ronald Trent and published by Humana. This book was released on 2016-08-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In Clinical Bioinformatics, Second Edition, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. Recent developments in omics, such as increasingly sophisticated analytic platforms allowing changes in diagnostic strategies from the traditional focus on single or small number of analytes to what might be possible when large numbers or all analytes are measured, are now impacting patient care. Covering such topics as gene discovery, gene function (microarrays), DNA sequencing, online approaches and resources, and informatics in clinical practice, this volume concisely yet thoroughly explores this cutting-edge subject. Written in the 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 protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Clinical Bioinformatics, Second Edition serves as an ideal guide for scientists and health professionals working in genetics and genomics.
Book Synopsis Single-cell Sequencing and Methylation by : Buwei Yu
Download or read book Single-cell Sequencing and Methylation written by Buwei Yu and published by Springer. This book was released on 2020-10-14 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field
Book Synopsis Long-Range Control of Gene Expression by : Veronica van Heyningen
Download or read book Long-Range Control of Gene Expression written by Veronica van Heyningen and published by Academic Press. This book was released on 2011-09-02 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long-Range Control of Gene Expression covers the current progress in understanding the mechanisms for genomic control of gene expression, which has grown considerably in the last few years as insight into genome organization and chromatin regulation has advanced. Discusses the evolution of cis-regulatory sequences in drosophila Includes information on genomic imprinting and imprinting defects in humans Includes a chapter on epigenetic gene regulation in cancer
Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz
Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
Book Synopsis Gene-Environment Interactions in Psychiatry by : Bart Ellenbroek
Download or read book Gene-Environment Interactions in Psychiatry written by Bart Ellenbroek and published by Academic Press. This book was released on 2016-07-26 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene-Environment Interactions in Psychiatry: Nature, Nurture, Neuroscience begins with the basic aspects of gene–environment studies, such as basic genetics, principles of animals modeling, and the basic processes of how environmental factors affect brain and behavior, with part two describing the most important psychiatric disorders in detail. Each chapter has a similar structure that includes a general description of the disorder that is followed by an analysis of the role of genes and how they are affected by environmental factors. Each chapter ends with a description of the most relevant animal models, again focusing on gene–environment interactions. The book concludes with a critical evaluation of the current research and an outlook for the (possible) future, offering a vignette into the fascinating world of nature, nurture, and neuroscience. - Written to provide in-depth basic knowledge on gene–environment interactions for graduate students, postgraduate students, clinicians, and scientists - Includes descriptions of the major psychiatric disorders - Provides detailed descriptions of animal models and basic genetic information - Presents well-illustrated color figures to explain complex features in a simple manner
Book Synopsis Encyclopedia of Autism Spectrum Disorders by : Fred R. Volkmar
Download or read book Encyclopedia of Autism Spectrum Disorders written by Fred R. Volkmar and published by . This book was released on 2016 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Rare Disease Drug Development by : Raymond A. Huml
Download or read book Rare Disease Drug Development written by Raymond A. Huml and published by Springer Nature. This book was released on 2021-11-08 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients. A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development. Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers.
Book Synopsis Rare Diseases by : Mani T. Valarmathi
Download or read book Rare Diseases written by Mani T. Valarmathi and published by BoD – Books on Demand. This book was released on 2021-09-22 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, this book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, 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.
Book Synopsis Evolution and Disease by : James Thomas Charles Nash
Download or read book Evolution and Disease written by James Thomas Charles Nash and published by . This book was released on 1915 with total page 90 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Copy Number Variation and Disease by : Hildegard Kehrer-Sawatzki
Download or read book Copy Number Variation and Disease written by Hildegard Kehrer-Sawatzki and published by Karger Medical Scientific. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Copy Number Variation in Rare Disorders by : Judit Bene
Download or read book Copy Number Variation in Rare Disorders written by Judit Bene and published by Frontiers Media SA. This book was released on 2022-04-28 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Psychiatric Genetics by : Thomas G. Schulze
Download or read book Psychiatric Genetics written by Thomas G. Schulze and published by Oxford University Press. This book was released on 2018 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: Psychiatric Genetics: A Primer for Clinical and Basic Scientists offers a straightforward introduction to the essentials of psychiatric genetics, covering basic epidemiology, recruitment for human studies, phenotyping strategies, formal genetic and molecular genetic studies, statistical genetics, bioinformatics and genomics, pharmacogenetics, the most relevant animal models, and biobanking. Each chapter begins with a list of "take home" points that summarizes content, followed by a brief overview of current knowledge and suggestions for further reading.
Download or read book Mitosis and Meiosis Part A written by and published by Academic Press. This book was released on 2018-05-24 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitosis and Meiosis, Part A, Volume 144, a new volume in the Methods in Cell Biology series, continues the legacy of this premier serial with quality chapters authored by leaders in the field. Unique to this updated volume are chapters on Analyzing the Spindle Assembly Checkpoint in human cell culture, an Analysis of CIN, a Functional analysis of the tubulin code in mitosis, Employing CRISPR/Cas9 genome engineering to dissect the molecular requirements for mitosis, Applying the auxin-inducible degradation (AID) system for rapid protein depletion in mammalian cells, Small Molecule Tools in Mitosis Research, Optogenetic control of mitosis with photocaged chemical, and more. - Contains contributions from experts in the field from across the world - Covers a wide array of topics on both mitosis and meiosis - Includes relevant, analysis based topics
Download or read book Rare Diseases written by Meral Özgüç and published by Springer. This book was released on 2014-09-08 with total page 219 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent “proof-of-principles” for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, “doctor-patient” collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value.
