Download or read book Mapping Genetic Interactions for Rare Disease Associated Genes written by Kristin Kantautas and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over 7,000 rare diseases have been identified in the human population that, in aggregate, affect over 400 million people worldwide. The majority of rare diseases that have been identified are genetic in origin. However, a key challenge in developing therapies is that the functions of many rare disease-associated genes are poorly understood and consequently, their role in disease pathogenesis. There is strong appreciation that genes do not act in isolation and many disease phenotypes may arise from complex genetic interactions (GIs). Systematic mapping of GIs offers a wealth of information about gene function and advancements in gene-editing technology, such as clustered regularly interspaced short palindromic repeats (CRISPR), allows for GI mapping in human cells. In this thesis, I describe how lentiviral-based genome-wide pooled CRISPR/Cas9 screens offer insight into the function of rare disease-associated genes including NGLY1 and the genes encoding the complement regulatory proteins (CRPs): CD46, CD55, and CD59. Autosomal recessive mutations in NGLY1 give rise to NGLY1-deficiency, a congenital disorder of deglycosylation. How the loss of NGLY1 function contributes to disease pathogenesis is poorly understood. The CRPs are key inhibitors of the complement cascade and their impaired function contributes to a wide range of common and rare diseases. Similar to NGLY1, the functions of the CRPs independent of complement-regulation and roles in disease have not been explored using functional genomics approaches. To further our functional understanding of NGLY1 and the genes encoding the CRPs, I performed pooled genome-wide CRISPR/Cas9 screens to identify GIs, and uncovered a novel genetic relationship between the CRPs and the NGLY1 pathway involving genes in the secretory pathway that may coordinate different aspects of intracellular cholesterol trafficking. My work demonstrates the utility in mapping GIs in order to reveal functional relationships with rare disease genes, offering critical insight into the genetic underpinnings of NGLY1-deficiency and complement-independent functions of the CRPs. As the functions of many rare disease-associated genes are poorly characterized, mapping genetic interactions in co-isogenic human cell lines using genome-wide CRISPR screening approaches offers a powerful framework that may be exploited to gain insight into gene function and direct future therapeutic efforts.
Download or read book Genes Behavior and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-12-07 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Download or read book Gene Environment Interaction Analysis written by Sumiko Anno and published by CRC Press. This book was released on 2016-03-30 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene-environment (GE) interaction analysis is a statistical method for clarifying GE interactions applicable to a phenotype or a disease that is the result of interactions between genes and the environment. This book is the first to deal with the theme of GE interaction analysis. It compiles and details cutting-edge research in bioinformatics
Download or read book Plant Molecular Evolution written by J.J. Doyle and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Plant molecular biology has produced an ever-increasing flood of data about genes and genomes. Evolutionary biology and systematics provides the context for synthesizing this information. This book brings together contributions from evolutionary biologists, systematists, developmental geneticists, biochemists, and others working on diverse aspects of plant biology whose work touches to varying degrees on plant molecular evolution. The book is organized in three parts, the first of which introduces broad topics in evolutionary biology and summarizes advances in plant molecular phylogenetics, with emphasis on model plant systems. The second segment presents a series of case studies of gene family evolution, while the third gives overviews of the evolution of important plant processes such as disease resistance, nodulation, hybridization, transposable elements and genome evolution, and polyploidy.
Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Download or read book Epistasis and the Evolutionary Process written by Jason B. Wolf and published by Oxford University Press, USA. This book was released on 2000 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the last two decades, research into epistasis has seen explosive growth and has moved the focus of research in evolutionary genetics from a traditional additive approach. We now know the effects of genes are rarely independent, and to reach a fuller understanding of the process of evolution we need to look at gene interactions as well as gene-environment interactions. This book is an overview of non-additive evolutionary genetics, integrating all work to date on all levels of evolutionary investigation of the importance of epistasis in the evolutionary process in general. It includes a historical perspective on this emerging field, in-depth discussion of terminology, discussions of the effects of epistasis at several different levels of biological organization and combinations of theoretical and experimental approaches to analysis.
Download or read book Practical Guide to Life Science Databases written by Imad Abugessaisa and published by Springer Nature. This book was released on 2022-01-06 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Download or read book Cells and Surveys written by National Research Council and published by National Academies Press. This book was released on 2001-01-19 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.
Download or read book Network Medicine written by Joseph Loscalzo and published by Harvard University Press. This book was released on 2017-02-01 with total page 449 pages. Available in PDF, EPUB and Kindle. Book excerpt: Big data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. With contributions from leading experts, Network Medicine introduces this rapidly evolving field of research, which promises to revolutionize the diagnosis and treatment of human diseases.
Download or read book Insights in Genetics of Common and Rare Diseases 2022 written by Jordi Pérez-Tur and published by Frontiers Media SA. This book was released on 2024-05-22 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: We are now entering the third decade of the 21st Century, and, especially in the last years, the achievements made by scientists have been exceptional, leading to major advancements in the fast-growing field of Genetics. Frontiers have organized a series of Research Topics to highlight the latest advancements in research across the field of Genetics, with articles from the members of our accomplished Editorial Boards. This editorial initiative is of particular relevance, led by Prof Erica Davis and Prof Jordi Pérez-Tur, Specialty Chief Editor of the Genetics of Common and Rare Diseases section, focused on new insights, novel developments, current challenges, latest discoveries, recent advances, and future perspectives in the field of Genetics of Common and Rare Diseases.
Download or read book Molecular Neuropathology written by Gareth W. Roberts and published by Cambridge University Press. This book was released on 1995-06-08 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also be examined at the protein level by immunocytochemistry and autoradiography. Improved understanding of basic biology has resulted in new approaches to animal models using transgenic techniques and new therapeutic approaches. The volume is structured to illustrate all these approaches and demonstrate the practice and promise of molecular neuropathology.
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.
Download or read book Gene Environment Interactions written by Moyra Smith and published by Academic Press. This book was released on 2020-01-24 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene Environment Interactions: Nature and Nurture in the Twenty-first Century offers a rare, synergistic view of ongoing revelations in gene environment interaction studies, drawing together key themes from epigenetics, microbiomics, disease etiology, and toxicology to illuminate pathways for clinical translation and the paradigm shift towards precision medicine. Across eleven chapters, Dr. Smith discusses interactions with the environment, human adaptations to environmental stimuli, pathogen encounters across the centuries, epigenetic modulation of gene expression, transgenerational inheritance, the microbiome's intrinsic effects on human health, and the gene-environment etiology of cardiovascular, metabolic, psychiatric, behavioral and monogenic disorders. Later chapters illuminate how our new understanding of gene environment interactions are driving advances in precision medicine and novel treatments. In addition, the book's author shares strategies to support clinical translation of these scientific findings to improve heath literacy among the general population. Offers a thorough, interdisciplinary discussion on recent revelations from gene environment interaction studies Illuminates environmental factors affecting disease-gene etiology and treatment Supports the clinical translation of gene environment interaction findings into novel therapeutics and precision medicine
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book A Time for Metabolism and Hormones written by Paolo Sassone-Corsi and published by Springer. This book was released on 2016-04-04 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.
