Download or read book Genomic dark matter implications for understanding human disease mechanisms diagnostics and cures written by Philipp Kapranov and published by Frontiers E-books. This book was released on with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: The vast majority of the human genome has been historically ignored from the point of view of molecular mechanisms of disease, diagnostics and potential therapeutic targets. The predominant focus of disease research has traditionally been placed on the protein-coding regions of the human genome, which account for only ~4-5% of its total sequence complexity. This bias has an obvious underlying reason: protein-coding regions encode a crucial class of molecules in a cell, whose function and importance are well established. Furthermore, proteins are the predominant class of cellular molecules against which effective therapeutics can be designed. This bias pervades the design of analytical tools made to measure DNA, DNA-protein interactions, as well as procedures used to measure and annotate transcriptome expression. Microarrays for example, are often biased to the regions of genome known to encode exons or promoters of protein-coding mRNAs. Other aspects of our approach towards measuring expression of RNAs such as the typical choice of polyA+ RNA selection, enriched in mRNAs, for next generation sequencing also reinforces this bias. In summary, the 2-3% of the genome and RNAs made from it has dominated the conceptual thinking of academic and medical communities as well as industries that make devices that measure nucleic acids for research or diagnostic purposes and the pharmaceutical industry. However, during the last decade a tide of data has gained sufficient momentum to suggest that the cell actually uses the remaining 97-98% of the genome to produce stable RNAs – the so-called “dark matter” RNA. The first reports to suggest this were based on tiling array technology and sequencing of ESTs, which while powerful, had their limitations: tiling arrays could not estimate the relative mass of the RNAs produced from the non-protein coding regions in a cell and the EST sequencing methods were not deep enough. The advent of next-generation sequencing, in particular, single-molecule sequencing has allowed us not only confirm the previous observations but also for the first time to estimate not only from where, but also how much non-exonic RNA is produced. Its fraction of the total transcriptome is quite significant, up to 2/3 of all RNA made in a human cell (http://www.biomedcentral.com/1741-7007/8/149 ). Moreover, the non-exonic RNAs are differentially expressed in disease: for example, between the primary tumors and metastatic derivatives. We believe that the logical next step from these observations is to ask three questions, perhaps some of the most important questions of our time in biomedical science: (1) do “dark matter” RNAs underlie mechanisms of human disease?; (2) Can they be used for diagnostics?; and (3) Can they be used as targets for therapeutics?. We thus would like to propose a Research Topic in the Frontiers in Genetics/Frontiers in Non-Coding RNAs that is specifically dedicated to publishing manuscripts addressing these three questions.

Download or read book Non coding RNA Mediated Post Transcriptional Regulation in Human Diseases written by Shaveta Kanoria and published by Frontiers Media SA. This book was released on 2022-05-27 with total page 133 pages. Available in PDF, EPUB and Kindle. Book excerpt:

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 Genomics Circuits and Pathways in Clinical Neuropsychiatry written by Thomas Lehner and published by Academic Press. This book was released on 2016-06-07 with total page 798 pages. Available in PDF, EPUB and Kindle. Book excerpt: This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. - Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics - Identifies key concepts, methods, and findings - Includes coverage of multiple disorders from autism to schizophrenia - Reviews specific genes associated with disorders - Discusses the genetic architecture of these syndromes - Explains how recent findings are influencing the understanding of biology - Clarifies the promise of these findings for future treatment

Download or read book Giardiasis From Etiology to Holistic Healing Practices written by Dr. Spineanu Eugenia and published by Dr. Spineanu Eugenia. This book was released on 2024-09-15 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Giardiasis: From Etiology to Holistic Healing Practices" is a comprehensive treatise delving into the intricate landscape of Giardia lamblia infection, exploring its origin, life cycle, and the multifaceted approaches toward both conventional and holistic healing methodologies. This meticulous examination navigates through the intricate pathways of the disease, unraveling the etiology and causes behind Giardiasis, shedding light on its prevalence, and delving into the diverse ways it manifests across different populations. The treatise begins by meticulously elucidating the structure, morphology, and mechanisms of Giardia lamblia, offering a detailed understanding of its interaction with the host's gastrointestinal tract and the underlying cellular and molecular pathways. It delineates the nuanced differences between acute and chronic Giardiasis, expounding upon gastrointestinal symptoms like diarrhea, abdominal pain, and bloating, while also exploring the intriguing realm of extra-intestinal symptoms that impact weight, malabsorption, fatigue, and allergic reactions.

Download or read book How Tobacco Smoke Causes Disease written by United States. Public Health Service. Office of the Surgeon General and published by . This book was released on 2010 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: This report considers the biological and behavioral mechanisms that may underlie the pathogenicity of tobacco smoke. Many Surgeon General's reports have considered research findings on mechanisms in assessing the biological plausibility of associations observed in epidemiologic studies. Mechanisms of disease are important because they may provide plausibility, which is one of the guideline criteria for assessing evidence on causation. This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke. This evidence is relevant to understanding how smoking causes disease, to identifying those who may be particularly susceptible, and to assessing the potential risks of tobacco products.

Download or read book Disease Control Priorities Third Edition Volume 6 written by King K. Holmes and published by World Bank Publications. This book was released on 2017-11-06 with total page 1027 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infectious diseases are the leading cause of death globally, particularly among children and young adults. The spread of new pathogens and the threat of antimicrobial resistance pose particular challenges in combating these diseases. Major Infectious Diseases identifies feasible, cost-effective packages of interventions and strategies across delivery platforms to prevent and treat HIV/AIDS, other sexually transmitted infections, tuberculosis, malaria, adult febrile illness, viral hepatitis, and neglected tropical diseases. The volume emphasizes the need to effectively address emerging antimicrobial resistance, strengthen health systems, and increase access to care. The attainable goals are to reduce incidence, develop innovative approaches, and optimize existing tools in resource-constrained settings.

Download or read book Regulation by non coding RNAs Volume 1 written by Nicholas Delihas and published by MDPI. This book was released on 2018-10-09 with total page 837 pages. Available in PDF, EPUB and Kindle. Book excerpt: Printed Edition of the Special Issue Published in IJMS

Download or read book Update on Essential Hypertension written by Lizbeth Salazar-Sanchez and published by BoD – Books on Demand. This book was released on 2016-09-14 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential hypertension is a quantitative characteristic that is important for correlating with the rate of morbidity and mortality in the developed and developing countries. The etiology of essential hypertension is complex. This work, authored by renowned researchers in the field, gives updated concepts about essential hypertension. Novel advanced topics are presented in a sole document as hypertension in children; the contribution in the psychiatric comorbidities associated with it; mechanisms of omega-3 in protection against hypertension-related organ damage; oxidative stress at different levels; genetics-associated studies; the role of pollution in essential hypertension; personalized healthcare in a hypertensive patient; and hypertension-related disparities between ethnic groups. It can conclude so that essential hypertension is one of the hottest topics in contemporary medicine.

Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Download or read book Multiple Sclerosis written by Institute of Medicine and published by National Academies Press. This book was released on 2001-08-10 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Multiple sclerosis is a chronic and often disabling disease of the nervous system, affecting about 1 million people worldwide. Even though it has been known for over a hundred years, no cause or cure has yet been discovered-but now there is hope. New therapies have been shown to slow the disease progress in some patients, and the pace of discoveries about the cellular machinery of the brain and spinal cord has accelerated. This book presents a comprehensive overview of multiple sclerosis today, as researchers seek to understand its processes, develop therapies that will slow or halt the disease and perhaps repair damage, offer relief for specific symptoms, and improve the abilities of MS patients to function in their daily lives. The panel reviews existing knowledge and identifies key research questions, focusing on: Research strategies that have the greatest potential to understand the biological mechanisms of recovery and to translate findings into specific strategies for therapy. How people adapt to MS and the research needed to improve the lives of people with MS. Management of disease symptoms (cognitive impairment, depression, spasticity, vision problems, and others). The committee also discusses ways to build and financially support the MS research enterprise, including a look at challenges inherent in designing clinical trials. This book will be important to MS researchers, research funders, health care advocates for MS research and treatment, and interested patients and their families.

Download or read book Gene Drives on the Horizon written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-08-28 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on gene drive systems is rapidly advancing. Many proposed applications of gene drive research aim to solve environmental and public health challenges, including the reduction of poverty and the burden of vector-borne diseases, such as malaria and dengue, which disproportionately impact low and middle income countries. However, due to their intrinsic qualities of rapid spread and irreversibility, gene drive systems raise many questions with respect to their safety relative to public and environmental health. Because gene drive systems are designed to alter the environments we share in ways that will be hard to anticipate and impossible to completely roll back, questions about the ethics surrounding use of this research are complex and will require very careful exploration. Gene Drives on the Horizon outlines the state of knowledge relative to the science, ethics, public engagement, and risk assessment as they pertain to research directions of gene drive systems and governance of the research process. This report offers principles for responsible practices of gene drive research and related applications for use by investigators, their institutions, the research funders, and regulators.

Download or read book Embryo Experimentation written by Peter Singer and published by Cambridge University Press. This book was released on 1993 with total page 284 pages. Available in PDF, EPUB and Kindle. Book excerpt: New developments in reproductive technology have made headlines since the birth of the world's first in vitro fertilization baby in 1978. But is embryo experimentation ethically acceptable? What is the moral status of the early human embryo? And how should a democratic society deal with so controversial an issue, where conflicting views are based on differing religious and philosophical positions? These controversial questions are the subject of this book, which, as a current compendium of ideas and arguments on the subject, makes an original contribution of major importance to this debate. Peter Singer is the author of many books, including Practical Ethics (CUP, 1979), Marx (Hill & Wang, 1980), and Should the Baby Live? (co-authored with Helga Kuhse, Oxford U.P., 1986).

Download or read book Genomic Applications in Pathology written by George Jabboure Netto and published by Springer. This book was released on 2018-12-10 with total page 631 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.

Download or read book Medical Epigenetics written by Trygve Tollefsbol and published by Academic Press. This book was released on 2016-06-21 with total page 944 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Epigenetics provides a comprehensive analysis of the importance of epigenetics to health management. The purpose of this book is to fill a current need for a comprehensive volume on the medical aspects of epigenetics with a focus on human systems, epigenetic diseases that affect these systems and modes of treating epigenetic-based disorders and diseases. The intent of this book is to provide a stand-alone comprehensive volume that will cover all human systems relevant to epigenetic maladies and all major aspects of medical epigenetics. The overall goal is to provide the leading book on medical epigenetics that will be useful not only to physicians, nurses, medical students and many others directly involved with health care, but also investigators in life sciences, biotech companies, graduate students and many others who are interested in more applied aspects of epigenetics. Research in the area of translational epigenetics is a cornerstone of this volume. Critical reviews dedicated to the burgeoning role of epigenetics in medical practice Coverage of emerging topics including twin epigenetics as well as epigenetics of gastrointestinal disease, muscle disorders, endocrine disorders, ocular medicine, pediatric diseases, sports medicine, noncoding RNA therapeutics, pain management and regenerative medicine Encompasses a disease-oriented perspective of medical epigenetics as well as diagnostic and prognostic epigenetic approaches to applied medicine

Download or read book Cancer Genomics written by Graham Dellaire and published by Academic Press. This book was released on 2013-11-21 with total page 511 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics addresses how recent technological advances in genomics are shaping how we diagnose and treat cancer. Built on the historical context of cancer genetics over the past 30 years, the book provides a snapshot of the current issues and state-of-the-art technologies used in cancer genomics. Subsequent chapters highlight how these approaches have informed our understanding of hereditary cancer syndromes and the diagnosis, treatment and outcome in a variety of adult and pediatric solid tumors and hematologic malignancies. The dramatic increase in cancer genomics research and ever-increasing availability of genomic testing are not without significant ethical issues, which are addressed in the context of the return of research results and the legal considerations underlying the commercialization of genomic discoveries. Finally, the book concludes with "Future Directions", examining the next great challenges to face the field of cancer genomics, namely the contribution of non-coding RNAs to disease pathogenesis and the interaction of the human genome with the environment. - Tools such as sidebars, key concept summaries, a glossary, and acronym and abbreviation definitions make this book highly accessible to researchers from several fields associated with cancer genomics. - Contributions from thought leaders provide valuable historical perspective to relate the advances in the field to current technologies and literature.

Download or read book Vogel and Motulsky s Human Genetics written by Friedrich Vogel and published by Springer Science & Business Media. This book was released on 1997 with total page 898 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides information on the molecular basis of human genetics and outlines the principles of other epigenetic processes which together create the phenotype of a human being. This work also discusses the molecular basis for the concepts, methods and results in fields such as population genetics.