Download or read book Genetics of Rare Autoimmune Diseases written by Javier Martín and published by Springer. This book was released on 2019-05-29 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: The main aim of this volume is to provide an updated overview of the genetic basis of a group of complex disorders that are considered rare individually, but show a relatively high prevalence on the whole in developed countries: the rare autoimmune diseases. These are chronic disorders that involve long and expensive treatments with considerable side effects that may dramatically reduce the quality of life of affected people. Therefore, shedding light into their pathologic mechanisms is a major concern given their growing social and economic awareness and impact. General sections include different chapters on single entities as systemic lupus and sclerosis, Behçet’s disease, Sjogren’s syndrome and polymiositis, and sections devoted to autoimmune vasculitis, hepatic autoimmune conditions, as well as those affecting the nervous system, and a concluding chapter in which the shared predisposition amongst all diseases is discussed. All the chapters are given a homogeneous scheme in which the authors explain the clinical singularities of every disease and report the recent breakthrough discoveries related to them, giving a critical interpretation and suggesting future perspectives. All contributors are renowned researchers with high expertise in each disease. Due to the exponential increase in our understanding of the genetic causes of these complex diseases, a major advance in biomedical discovery is taking place. However, most of the achievements in this field are very recent and there is a lack of bibliography gathering them together. This book is thus filling a gap and will prove a useful companion to clinicians in the first place (internists, rheumatologists, clinical immunologists, and hematologists) but also to basic and applied researchers.
Download or read book Genes and Genetics of Autoimmunity written by A.N. Theofilopoulos and published by . This book was released on 1999 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autoimmunity is one of the most highly investigated areas of immunologic research. The principle of immune system discrimination between self and foreign molecules is fundamental to the survival of the species, and the failure to establish or maintain this discrimination can lead to a wide spectrum of diseases. As a consequence of intensive studies, much has been learned with regard to the normal functioning of the immune system and the editing processes by which self-tolerance is established. Moreover, many theories and experimental models have been developed to explore the mechanisms of autoimmune disease pathogenesis. This book is the first volume of the new series 'Current Directions in Autoimmunity', which aims to consolidate current knowledge of autoimmunity focusing on both basic and clinical aspects. Given that these diseases have a strong genetic basis, it seems appropriate that the first volume addresses this topic. It reviews the most recent findings on genes affecting autoimmunity and genome-wide studies defining the multiple loci predisposing to prominent autoimmune diseases, such as lupus, arthritis, diabetes and multiple sclerosis. For each of these entities, studies in experimental models as well as humans are covered. The authoritative and timely material will be of interest to investigators in the fields of immunology and genetics, to clinicians with interest in rheumatology, endocrinology and neurology, and to those working to devise gene-specific therapies for a variety of inflammatory conditions.
Download or read book Genetics of Autoimmunity written by Gregory R. Bock and published by John Wiley & Sons. This book was released on 2005-09-01 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title provides an extremely helpful analysis of genes that may be associated with autoimmunity, and answers questions such as how these genes can be identified, and how the functions of the gene products can be elucidated. Incorporating data on disease-associated chromosomal loci that has been accumulated from inbred mice, the title: descibes how some susceptibility loci may be common to many diseases, whereas others are relatively disease specific discusses the importance of developing criteria for establishing the significance of these different categories of disease-associated loci.
Download or read book Rare Diseases and Orphan Products written by Institute of Medicine and published by National Academies Press. This book was released on 2011-04-03 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.
Download or read book Gene Therapy for Autoimmune and Inflammatory Diseases written by Yuti Chernajovsky and published by Springer Science & Business Media. This book was released on 2011-01-28 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this monograph about gene therapy of autoimmune and inflammatory d- orders we have gathered international experts and leaders from different fields to review the state of the art advances on topics ranging from disease entities to vectors and engineered cells. The different approaches described in each chapter take into consideration the biomedical knowledge of these diseases and address the complexities of delivering long-term genetic interventions. Gene therapy also serves as a testing ground for new therapeutic entities and helps provide proof of principle for their potential therapeutic role in animal models of disease. Scaling up from mice to men still remains an important h- dle not only from the quantitative point of view, but also for currently unknown and unexpected secondary effects of the vector or the transgene. Some of these approaches have already been tested in the clinic, but much more needs to be done to understand the human conditions treated and the n- ural history of their pathology. We are indebted to the secretarial assistance of Ms. Lin Wells (Bone and Joint Research Unit, London, UK) and the help of Hans Detlef Klüber for his help in getting this book published. We hope this book will be of interest to c- nicians and scientists and inspiring to students of the subject who will use their own ingenuity and knowledge to further forward this discipline into clinical use.
Download or read book Gene Therapy of Autoimmune Disease written by Gerald J. Prud'homme and published by Springer Science & Business Media. This book was released on 2007-02-26 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autoimmune diseases are diverse and responsible for considerable morbidity. Their etiology remains largely unknown, and current therapy with anti-inflammatory drugs is prone to adverse effects, and rarely curative. New therapies with anti-cytokine antibodies or receptors are promising, but require frequent administration of expensive protein drugs. Gene Therapy of Autoimmune Diseases comprehensively reviews research in gene therapy for autoimmune diseases with viral or non-viral vectors. Gene therapy offers the possibility of long-term, continuous delivery of a wide variety of immunosuppressive, anti-inflammatory, or tolerance-inducing agents. Moreover, highly specific genetically modified cells can be produced. This book discusses the most promising avenues in this exciting new field.
Download or read book Janeway s Immunobiology written by Kenneth Murphy and published by Garland Science. This book was released on 2010-06-22 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The Janeway's Immunobiology CD-ROM, Immunobiology Interactive, is included with each book, and can be purchased separately. It contains animations and videos with voiceover narration, as well as the figures from the text for presentation purposes.
Download or read book Approaches to Gene Mapping in Complex Human Diseases written by Jonathan L. Haines and published by Wiley-Liss. This book was released on 1998-10-08 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: Overview of mapping common and genetically complex human disease traits (J. L. Haines, M. A. Pericak-Vance). Basic concepts in genetics (M. C. Speer). Defining disease phenotypes (A. S. Aylsworth). Basic concepts in linkage analysis ( M. A. Pericak-Vance). Determining the genetic component of a disease (L. A. Farrer, L. A. Cupples). Patient and family participation in genetic research studies (P. E. Cohen, C. Wolpert). Sample size and power (M. C. Speer). The collection of biological samples for DNA analysis (J. M. Vance). Methods of genotyping (J. M. Vance, K. B. Othmane). Database design for gene mapping studies (C. Haynes, C. Blach). Genomic screening (J. L. Haines). Lod score analysis (J. Xu, D. A. Meyers, M. A. Pericak-Vance). Sib pair analysis (D. E. Goldgar). Affected relative pair analysis (J. L. Haines). Linkage disequilibrium and allelic association (M. A. Pericak-Vance). Using public databases (J. L. Haines). Laboratory approaches toward gene identification (D. A. Marchuk). Examining complex genetic interactions (J. M. Schildkraut). Glossary. Appendix: useful websites for genetic analysis. Index.
Download or read book Case Studies in Immunology written by Raif Geha and published by Garland Science. This book was released on 2010-07-29 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents case histories to illustrate in a clinical context essential points about the mechanisms of immunity. It includes cases that illustrate both recently discovered genetic immunodeficiencies and some more familiar and common diseases with interesting immunology.
Download or read book Autoimmune Disease written by Mary Patterson and published by Createspace Independent Publishing Platform. This book was released on 2016-03-13 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gain Vitality, Energy and Happiness With Increased Autoimmune Health! Do you have an autoimmune disorder? Does a family member have this condition? How can you know if one of these diseases is affecting your life? If so, Autoimmune Disease: Discover The Symptoms & Treatment of Chronic Pain & Genetic Disease is the book for you! Mary Patterson explains the scientific background and root causes of autoimmune diseases so you know exactly what you're dealing with. You'll understand the basic processes underlying autoimmunity - and which symptoms you should look for in yourself and your loved ones! Discover The Details of A Number of Autoimmune Diseases: Thyroid Gland Disorders Rheumatoid Arthritis Systemic Lupus Erythematosus Multiple Sclerosis Type 1 Diabetes Mellitus and even Celiac Disease! With natural nutrition, a belief in healing and the functional treatments in this book, you can combat autoimmune diseases and feel great - TODAY!
Download or read book Immunogenetics of Autoimmune Disease written by Jorge R. Oksenberg and published by Springer. This book was released on 2014-12-13 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: utoimmunity is the downstream outcome of a rather extensive and coordinated series of events that include loss of self-tolerance, peripheral lymphocyte Aactivation, disruption of the blood-systems barriers, cellular infiltration into the target organs and local inflammation. Cytokines, adhesion molecules, growth factors, antibodies, and other molecules induce and regulate critical cell functions that perpetuate inflammation, leading to tissue injury and clinical phenotype. The nature and intensity of this response as well as the physiological ability to restore homeostasis are to a large extent conditioned by the unique amino acid sequences that define allelic variants on each of the numerous participating mol ecules. Therefore, the coding genes in their germline configuration play a primary role in determining who is at risk for developing such disorders, how the disease progresses, and how someone responds to therapy. Although genetic components in these diseases are clearly present, the lack of obvious and homogeneous modes of transmission has slowed progress by prevent ing the full exploitation of classical genetic epidemiologic techniques. Furthermore, autoimmune diseases are characterized by modest disease risk heritability and m- tifaceted interactions with environmental influences. Yet, several recent discoveries have dramatically changed our ability to examine genetic variation as it relates to human disease. In addition to the development of large-scale laboratory methods and tools to efficiently recognize and catalog DNA diversity, over the past few years there has been real progress in the application of new analytical and data-manage ment approaches.
Download or read book Genetic Basis of Autoimmune Disease written by Julius M. Cruse and published by S. Karger AG (Switzerland). This book was released on 1988 with total page 220 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic and Functional Approaches to Understanding Autoimmune and Inflammatory Pathologies written by Abbas Raza and published by . This book was released on 2020 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our understanding of genetic predisposition to inflammatory and autoimmune diseases has been enhanced by large scale quantitative trait loci (QTL) linkage mapping and genome-wide association studies (GWAS). However, the resolution and interpretation of QTL linkage mapping or GWAS findings are limited. In this work, we complement genetic predictions for several human diseases including multiple sclerosis (MS) and systemic capillary leakage syndrome (SCLS) with genetic and functional data in model organisms to associate genes with phenotypes and diseases. Focusing on MS, an autoimmune inflammatory disease of the central nervous system (CNS), we experimentally tested the effect of three of the GWAS candidate genes (SLAMF1, SLAMF2 and SLAMF7) in the experimental autoimmune encephalomyelitis (EAE) mouse model and found a male-specific locus distal to these loci regulating CNS autoimmune disease. Functional data in mouse suggests this male-specific locus modulates the frequency of immune cells including CD11b+, TCR[alpha beta]+CD4+Foxp3+, and TCR[alpha beta]+CD8+IL-17+ cells during EAE disease. Orchiectomy experiments demonstrate that this male specific phenotype is dependent on testis but not testosterone (T) or 5[alpha]-dihydrotestosterone (DHT). Using a bioinformatic approach, we identified SLAMF8 and SLAMF9 along with other differentially expressed genes in linkage with MS-GWAS predictions whose expression is testis-dependent, but not directly regulated by T or DHT, as potential positional candidates regulating CNS autoimmune disease. Further refinement of this locus is required to identify the causal gene(s) that may be targeted for prevention and/or treatment of MS in men. Using SCLS, an extremely rare disorder of unknown etiology characterized by recurrent episodes of vascular leakage, we identified and modeled this disease in an inbred mouse strain, SJL, using susceptibility to histamine- and infection-triggered vascular leak as the major phenotypic readout. This trait "Histamine hypersensitivity" (Histh/Histh) was mapped to a region on Chr 6. Remarkably, Histh is syntenic to the genomic locus most strongly associated with SCLS in humans (3p25.3). Subsequent studies found that the Histh locus is not unique to SJL but additional mouse strains also exhibit Histh phenotype. Considering GWAS studies in SCLS are limited by the small number of patients, we utilized interval-specific SNP-based association testing among Histh phenotyped mouse strains to predict Histh candidates. Furthermore, to dissect the complexity of Histh QTL, we developed network-based functional prediction methods to rank genes in this locus by predicting functional association with multiple Histh-related processes. The top-ranked genes include Cxcl12, Ret, Cacna1c, and Cntn3, all of which have strong functional associations and are proximal to SNPs segregating with Histh. Lastly, we utilized the power of integrating genetic and functional approaches to understand susceptibility to Bordetella pertussis and pertussis toxin (PTX) induced histamine sensitization (Bphs/Bphs), a sub-phenotype with an established role in autoimmunity. Congenic mapping in mice had earlier linked Bphs to histamine H1 receptor gene (Hrh1/H1R) and demonstrated that H1R differs at three amino acid residues in Bphs-susceptible and -resistant mice. Our subsequent studies identified eight inbred mouse strains that were susceptible to Bphs despite carrying a resistant H1R allele. Genetic analyses mapped the locus complementing Bphs to mouse Chr 6, in linkage disequilibrium with Hrh1; we have designated this Bphs-enhancer (Bphse). Similar to the approaches used for Histh, we utilized interval-specific SNP based association testing and network-based functional enrichment to predict nine candidate loci for Bphse including Atp2b2, Atg7, Pparg, Syn2, Ift122, Raf1, Mkrn2, Timp4 and Gt(ROSA)26Sor. Overall, these studies demonstrate the power of integrating genetic and functional methods in humans and animal models to predict highly plausible loci underlying QTL/GWAS data.
Download or read book Polymyositis and Dermatomyositis written by Marinos C. Dalakas and published by Butterworth-Heinemann. This book was released on 2013-10-22 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Polymyositis and Dermatomyositis provides extensive information regarding Polymyositis and Dermatomyositis (PM/DM), which is described as a heterogeneous disease complex. This book is divided into four sections: Part I (Clinical Features) covers the classification of PM/DM, details of the clinical presentation, and the disease's association with the other connective tissue disorders and malignancies. Part II (Etiology and Mechanisms) covers advances in the immunopathology and viral etiology of PM/DM along with a frequently recognized entity: inclusion body myositis. Part III (Diagnosis and Treatment) covers the histologic, muscle enzyme histochemical, electron microscopic, and resin histology features of PM/DM along with those electromyographic features that could help make a more accurate diagnosis. Part IV (Overview) summarizes the issues that may not have been clear and highlights differing and unsettled views or present available data. This text is directed to clinicians in private practice or in academic institutions concerned with PM/DM patients, including neurologists, rheumatologists, pediatricians, dermatologists, physiatrists, and neuromuscular investigators. This book is intended as well for neuromuscular pathologists who interpret muscle biopsy specimens and electromyographers who perform EMG studies to help determine the clinical diagnosis. Researchers in immunology and immunopathology of neuromuscular diseases will find discussions in this book invaluable.
Download or read book Autoimmune Disease written by Duncan Dartrey Adams and published by Springer. This book was released on 2013-08-22 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes how the Jerne-Burnet Forbidden Clone Theory and the Adams-Knight H Gene Theory, solved the pathogenesis and genetics of the autoimmune diseases showing how specific immunotherapy and prophylaxis can be developed. Furthermore, Ebringer's discovery of two microbial triggers of autoimmune diseases is described and the conclusion drawn that all autoimmune diseases have microbial triggers, so will be preventable by the finding of the triggers and vaccination against them.
Download or read book Genome Wide Association Studies written by Tatsuhiko Tsunoda and published by Springer Nature. This book was released on 2019-10-31 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book examines the utility of genome-wide association studies (GWAS) in the era of next-generation sequencing and big data, identifies limitations and potential means of overcoming them, and looks to the future of GWAS and what may lay beyond. GWAS are among the most powerful tools for elucidating the genetic aspects of human and disease diversity. In Genome-Wide Association Studies, experts in the field explore in depth the impacts of GWAS on genomic research into a variety of common diseases, including cardiovascular, autoimmune, diabetic, cancer, and infectious diseases. The book will equip readers with a sound understanding both of the types of disease and phenotypes that are suited for GWAS and of the ways in which a road map resulting from GWAS can lead to the realization of personalized/precision medicine: functional analysis, drug seeds, pathway analysis, disease mechanism, risk prediction, and diagnosis.
Download or read book The Autoimmune Brain written by David S. Younger and published by Rowman & Littlefield. This book was released on 2019-11-10 with total page 289 pages. Available in PDF, EPUB and Kindle. Book excerpt: There are millions of people who experience issues related to brain health—depression, attention issues, anxiety, forgetfulness, fatigue, and even chronic pain—yet can’t figure out what’s causing their problems and can’t find any relief. They may have seen a myriad of doctors, many of whom do not take their complaints seriously, or worse, turn to the easy, often inappropriate fix of antidepressants or anti-anxiety medications. Traditional medications, supplements, or other therapies haven’t worked. No matter what their age—from children to teens or seniors—people and their loved ones are frustrated, scared, and confused by their continued poor health. Countless others display severe psychiatric symptoms that seem to come out of nowhere, ranging from tics, obsessive-compulsive behaviors and anxiety, to depression, bipolar-like mood swings, and even borderline personality disorder and suicidal ideas. Sometimes, the people affected are the only ones that notices a change to the way they think or feel, and they suffer in silence. Or, they reach out to try to get help, and are all too frequently misdiagnosed. David Younger, a world-renowned physician, provides relief to these patients and their families. His diagnostic techniques and treatment protocols will help readers identify the true cause of their symptoms and put them on a clear path to healing so they no longer feel unbalanced, out of control, forgetful, and exhausted. The Autoimmune Brain connects common brain health symptoms to the changes in the immune system, and particularly bacterial, viral, and parasitic infections. Younger explains his groundbreaking research and adds a new component: how traumatic stress (whether physical or emotional) and genetics affects this same triad as inextricable factors in initiating disease and brain health symptoms. In fact, a change in personality, behavior, coping style, and one’s emotional state may be the first clue that there is a health problem brewing somewhere else in the body. Readers will find new answers to troubling conditions, including: Alzheimer’s disease; Anxiety; Arthritis; Autism; Autonomic disturbances; Bacterial and viral infections; Bipolar Disorder; Cancer; Celiac disease and gluten intolerances; Chronic Fatigue Syndrome (now referred to as Systemic Exertion Intolerance Disease); Chronic Pain; Dementia; Depression; Endocrine Disorders; Immune modulatory therapy using IVIg; Lyme disease and co-infections; Mast cell activation syndrome; Medical cannabis; Obsessive Compulsive Disorder; Orthostatic hypotension; Peripheral Neuropathy; Porphyria; Post-Traumatic Stress Disorder; and Postural orthostatic tachycardia.
