Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult diseases, and we now have a better understanding of the molecular processes involved in genetic susceptibility and diseases mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondylarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the omplexities of these diseases. Unique clinical applications of genetics to common diseases are covered in the additional new chapters on genetic counseling, pharmacogenetics, and the genetic consequences of modern therapeutics.
Here is a unique and comprehensive resource for human geneticists and physicians concerned with the genetic causes of diseases routinely seen in research, clinical practice, and genetic counseling. Each of the chapters covers a particular disease, describes the genetic factors involved, and define the relevant biochemical, immunological, and physiological markers. The expert, widely known contributors also detail clinical applications, with advice on how the genetic data can be used to evaluate individuals and families, interpret diagnostic texts, and manage the disease.
This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Ultimately, the quality of the tools available for genetic analysis and experimental disease models will be assessed on the basis of whether they provide new information that generates novel treatments for human disease. In addition, the time frame in which genetic discoveries impact clinical practice is also an important dimension of how society assesses the results of the significant public financial investment in genetic research. Because of the investment and the increased expectation that new tre- ments will be found for common diseases, allowing decades to pass before basic discoveries are made and translated into new therapies is no longer acceptable. Computational Genetics and Genomics: Tools for Understanding Disease provides an overview and assessment of currently available and developing tools for genetic analysis. It is hoped that these new tools can be used to identify the genetic basis for susceptibility to disease. Although this very broad topic is addressed in many other books and journal articles, Computational Genetics and Genomics: Tools for Understanding Disease focuses on methods used for analyzing mouse genetic models of biomedically - portant traits. This volume aims to demonstrate that commonly used inbred mouse strains can be used to model virtually all human disea- related traits. Importantly, recently developed computational tools will enable the genetic basis for differences in disease-related traits to be rapidly identified using these inbred mouse strains. On average, a decade is required to carry out the development process required to demonstrate that a new disease treatment is beneficial.
The Molecular Genetic Basis of Rheumatological Disorders
Author: Matthew A. Brown
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.
Over the last decade there has been a substantial increase in our understanding of the genetic basis of common disorders such as stroke. Stroke Genetics is designed to give the reader an overall understanding of the genetics of complex diseases by using stroke as a paradigm. The reader will gain a comprehensive understanding of cerebrovascular genetics including the epidemiological evidence for the genetic basis of ischemic and hemorrhagic stroke, knowledge of its molecular basis from association, linkage and recent genome-wide studies, and also monogenic disorders. Finally, the legal and ethical complexities in dealing with these issues are discussed. Stroke Genetics benefits from the contribution of renowned experts from throughout the world who have been intimately involved in unraveling the genetic etiology of stroke. Stroke Genetics is a valuable resource for neurologists, stroke physicians, hypertension specialists, internists, clinical pharmacologists and those in training, as well as researchers in the field of disease genetics.
This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.
Genome-wide association studies (GWAS) have been successful in identifying disease-associated genetic variants. However, the path from GWAS to biological insight remains challenging, notably in identifying relevant biological pathways, explaining mechanistic links between diseases, and nominating disease-critical tissues and cell types. In this thesis, I introduce computational methods to dissect the genetic basis of human disease by integrating GWAS with functional data. In the first chapter, I integrate the GWAS with biological pathways and gene networks to elucidate biological mechanisms. I identify significantly associated pathways and highlight the importance of accounting for regulatory annotations in pathway enrichment and gene network analyses. In the second chapter, I investigate the shared genetic architecture between Mendelian disease and common disease by developing a machine learning framework to impute and denoise Mendelian disease-derived pathogenicity scores. I assess the informativeness of Mendelian pathogenicity scores for common disease and improve upon existing scores. In the third chapter, I prioritize disease-critical cell types by integrating GWAS with single-cell gene expression and chromatin accessibility profiling of fetal and adult brains. I show that identified disease-cell type associations recapitulates known biology while informing future analyses of disease mechanisms.
Human Genetics provides an insight into the basic human genetics, common genetic disorders, the inheritance pattern, the genetic basis for the diseases, the sensitive periods in human development, the detection of the diseases and the mechanism of genetic variation and deals with the heritable nature of most of the diseases. This book highlights the human genome project with its social implications. The proposed model for human cloning and stem cells as 21st century medicine for genetic diseases and describes the process of genetic counseling and the treatment methods undertaken in dealing with the genetic disorders. The ethical issues related to genetic counseling are also presented.