Genetics of Rare Autoimmune Diseases

Genetics of Rare Autoimmune Diseases

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 ...

Author: Javier Martín

Publisher: Springer

ISBN: 9783030039349

Category: Medical

Page: 240

View: 418

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.
Categories: Medical

Beh et s Syndrome

Beh  et s Syndrome

This book offers comprehensive coverage of the disease by some of the world’s leading experts in Behçet's syndrome from all the relevant specialties.

Author: Lorenzo Emmi

Publisher: Springer Science & Business Media

ISBN: 9788847054776

Category: Medical

Page: 229

View: 102

Behçet's syndrome can reasonably be considered a unique entity among diseases of the immune system for several reasons: It has specific features and, uniquely among the immune system pathologies, represents a link between autoimmune diseases, systemic vasculitis, and autoinflammatory diseases. In addition, it is of interest to a variety of specialists, including immunologists, rheumatologists, dermatologists, and ophthalmologists, and requires a complex multidisciplinary approach. Many aspects need to be considered in a syndrome that presents a wide spectrum of symptoms and for which the therapeutic armamentarium is expanding significantly, with the development of new treatments, not least the so-called biologics. This book offers comprehensive coverage of the disease by some of the world’s leading experts in Behçet's syndrome from all the relevant specialties. Epidemiology, genetics, pathogenesis, organ system involvement, differential diagnosis, novel treatments, surgical management, and prognosis are just some of the topics addressed. Behçet's Syndrome: From Pathogenesis to Treatment will be an invaluable reference for a range of practitioners, researchers, and undergraduates or postgraduates interested in immuno-rheumatology, dermatology, and rare diseases.​
Categories: Medical

Progress Pioneers and Process

Progress  Pioneers and Process

Cells and Organelles -- Proteins -- Insights Gained from Studies of Rare Diseases -- Genes and Genomes, Individuals and Populations -- Metabolism and Genetic Variation -- Congenital Malformations and Developmental Defects -- Receptors and ...

Author: Moyra Smith

Publisher:

ISBN: 9813270586

Category: MEDICAL

Page: 465

View: 397

Categories: MEDICAL

Genetics of Diabetes Mellitus

Genetics of Diabetes Mellitus

man syndrome , a rare autoimmune disorder of the central nervous system ( 10 ) . The other is autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy ( APECED ; also known as APS - I or autoimmune polyendocrine syndrome type ...

Author: William L. Lowe

Publisher: Springer Science & Business Media

ISBN: 0792372522

Category: Medical

Page: 255

View: 627

Genetics of Diabetes Mellitus is intended to be a resource for both researchers in the field as well as endocrinologists, diabetologists, and geneticists who seek to learn more about this rapidly changing and important field. The text contains chapters from experts in the area who review aspects of the genetics of both type 1 and 2 diabetes mellitus as well as various syndromic forms of diabetes. The chapters are approachable for those who are not experts in the field of genetics but also comprehensive, so as to serve as an important resource for researchers interested in the genetics of diabetes mellitus. A description of basic concepts of the genetics of complex diseases like type 1 and type 2 diabetes is provided as background. Type 1 diabetes is addressed in chapters exploring genetic determinants that affect the autoimmune process characteristic of type 1 diabetes, the role of the insulin gene in the pathogenesis of type 1 diabetes and additional genes that may impact upon the risk of type 1 diabetes. The impact of genetic determinants on the pathophysiology of type 2 diabetes is covered, as are chapters that address specific genes that are important for the development of type 2 diabetes. Finally, syndromic forms of diabetes, including Maturity Onset Diabetes of the Young and mitochondrial diabetes, and the insight that these disorders provide into more common forms of diabetes are reviewed. Thus, this comprehensive and up-to-date text will serve as an important resource for those actively engaged in research in this area and clinicians treating these patients to provide an up-to-date entrée for those seeking to become more knowledgeable in the area.
Categories: Medical

Medical Epigenetics

Medical Epigenetics

Such binding inhibits elongation of virally induced genes, presumably by occluding PAF1 and RNA Pol II association to gene ... A few rare autoimmune diseases with Mendelian inheritance patterns within families have been known to occur, ...

Author: Trygve Tollefsbol

Publisher: Academic Press

ISBN: 9780128032404

Category: Science

Page: 924

View: 831

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
Categories: Science

Genetics for Rheumatologists

Genetics for Rheumatologists

Inheritance Rare autosomal forms reported. Increased risk of autoimmune disease in relatives of patients with IM is probably due to polygenic inheritance. Chromosomal location 6p21.3 Gene HLA-DRB1*0301, DQA1*0501, DR7 (in carriers of ...

Author: Matthew A. Brown

Publisher: Remedica

ISBN: 9781901346312

Category: Medical

Page: 226

View: 308

Annotation Trainee and practicing rheumatologists The study of disease genetics arguably began in rheumatology, with the description of the hereditary basis of alkaptonuria by Garrod in 1902, and the introduction of the concept of in-born errors of metabolism. A large proportion of the diseases seen by rheumatologists have genetic influences. The dissection of the genetic basis of rheumatic diseases has moved rapidly over the past 15 years. Increasingly, rheumatologists are being asked the question "How likely is it that my children will develop the disease I have?', and about the utility of genetic testing for those diseases. This book is not a hefty tome full of genetics jargon, but a quick reference source for doctors written to help answer those questions.
Categories: Medical

Genetic Diagnosis of Endocrine Disorders

Genetic Diagnosis of Endocrine Disorders

They comprise a wide spectrum of autoimmune disorders [1,2]. They encompasse a rare juvenile type (APS1) and more frequent adult types (APS2 and APS3) [3]. The juvenile type APS1 is also known as autoimmune polyendocrinopathy ...

Author: Roy E. Weiss

Publisher: Academic Press

ISBN: 0080922287

Category: Medical

Page: 336

View: 981

Since the beginning of the current century, endocrine disease diagnosis and treatment have moved beyond the standard hormone measurements. While, indeed elevated thyroid hormone levels or low insulin levels signal a specific endocrine disease, correct diagnosis (and therefore correct treatment) depends on an understanding of the molecular basis for the disease. This book presents the "bench to bedside" approach of our understanding of the genetic basis for endocrine disease. It is organized by endocrine grouping (e.g. Thyroid, Pancreas, Parathyroid, Pituitary, Adrenal, Reproductive and Bone) and genetic/molecular basis for the diagnosis of the various disorders will be discussed. Emphasis will be placed on the practical nature of diagnosing a disease. For example: 1. Which tests should be done for the diagnosis of Diabetes mellitus Type I in children who presented at less than 6 months; at less than 12 years, in adulthood, etc., and why should those tests be done?; 2. Which genes should be evaluated for subjects with congenital hypothyroidism; 3. Which genetic tests should be ordered in obesity?; 4. Which genetic test should be ordered in a patient with Parathyroid Carcinoma?; 5. What is the rationale behind testing for Multiple Endocrine Neoplasia? The field of genetic diagnosis of disease is exploding now, with multiple laboratories developing tests for current clinical use. Most practicing endocrinologists, pediatricians and internal medicine physicians don't understand which test to order, how the tests are done, or how to interpret the results. One of the most exciting development in medicine today is the pharmacogenomics revolution - enocrinologists and geneticists need to understand how personalized medicine will fit into the daily care of patients. While this is a quickly growing area and there are textbooks on pharmacogenomics, there is no one source for the spectrum of Endocrine diseases. Selected for inclusion in Doody's Core Titles 2013, an essential collection development tool for health sciences libraries Presents a comprehensive, translational look at all aspects of genetic diagnosis of endocrine disorders in one reference work Endocrinology experts (the researchers who discovered the majority of the gene mutations for a particular disease) teach readers about the molecular basis for diseases in each major endocrine organ system Clear presentation by geneticists of pharmacogenetics and the actual assays used in detecting endocrine diseases Genetic counselors offer expert advice on how to use genetic information in counseling patients
Categories: Medical

Examining the Causal Relationship Between Genes Epigenetics and Human Health

Examining the Causal Relationship Between Genes  Epigenetics  and Human Health

Retrieved from https://rarediseases.org/rare-diseases/diastrophic-dysplasia/ National Organization for Rare Diseases (NORD). (2018b). Retrieved from https://rarediseases.org/ rare-diseases/autoimmune-polyendocrine-syndrome-type-ii/ ...

Author: Wambuguh, Oscar J.

Publisher: IGI Global

ISBN: 9781522580676

Category: Medical

Page: 603

View: 226

For as much as we know about DNA and gene expression, many more mysteries remain to be solved. Epigenetics and epigenomics seek to study heritable modifications in gene expression that do not involve underlying DNA sequences to further human health changes. Examining the Causal Relationship Between Genes, Epigenetics, and Human Health provides innovative research methods and applications of chemical activation or deactivation of genes without altering the original DNA sequence. While highlighting topics including gene expression, personalized medicine, and public policy, this book is ideal for researchers, geneticists, biologists, medical professionals, students, and academics seeking current research on the expanding fields of genomics, epigenomics, proteomics, pharmacogenomics, and genome-wide association studies.
Categories: Medical

Clinical Neuroimmunology

Clinical Neuroimmunology

Box 9.1 Model of genetic contributions in immunemediated neurologic diseases ... Disease genesGenes with rare alleles but strong effects and penetrance (deletions, expansions, translocations, etc.). Susceptibility genesGenes ...

Author: Jack Antel

Publisher: OUP Oxford

ISBN: 9780191585821

Category: Medical

Page: 464

View: 466

Clinical Neurimmunology is the major reference text in the field, providing broad and comprehensive coverage of the interaction between the nervous and immune systems in both normal and diseased states. Understanding this interaction is fundamental to developing therapeutic approaches to disease and injury of the nervous system that are currently only marginally amenable to therapy. Neuroimmunology is a well-recognised and growing specialty world wide, both at the basic science and clinical level. It is a fast moving field and this is the most up to date text available. Chapters are dedicated to the role of the immune system in disorders affecting both the central and peripheral nervous systems, including important neurodegenerative diseases (such as multiple sclerosis and HIV-related neural degeneration) which cause life-long disability. Extensive coverage is given to a whole array of immune-directed therapies. The book has a strong international team of well respected, high profile editors and authors. The first edition published to extensive and positive reviews and has established itself as the principal reference source in the field. This second edition summarizes recent advances in clinical neuroimmunology in a comprehensive and unbiased way.
Categories: Medical

Immunogenetics of Autoimmune Disease

Immunogenetics of Autoimmune Disease

Moreover DQB1*0602 homozygotes have a 2-4 higher risk of developing the disease than heterozygotes." Complementation of HLA-DQA1 and DQB1 Unusual DRB1*X, DQA1*0102, DQB1*0602 haplotypes have been identified in Caucasian narcoleptic ...

Author: Jorge R. Oksenberg

Publisher: Springer Science & Business Media

ISBN: 9780387399263

Category: Medical

Page: 158

View: 979

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.
Categories: Medical