Genetic Dissection of Complex Traits


Book Description

The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Five sections on the latest advances in complex traits Methods for testing with ethical, legal, and social implications Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more




Analysis of Complex Disease Association Studies


Book Description

According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. - Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests - Extensive list of references including links to tutorial websites - Case studies and Tips and Tricks




Surgical Pathology Dissection


Book Description

Filling the need for a comprehensive, fully-illustrated guide to the subject, this practical manual demonstrates a logical approach to the preparation, dissection, and handling of the tissue specimens most commonly encountered in today's surgical pathology laboratory. Each dissection is vividly illustrated with powerful 3D line drawings created exclusively for this book. The authors discuss the clinically important features of various types of specimens and lesions over the whole range of organ systems. The consistent approach provides a valuable conceptual framework for points to bear in mind during the dissection and each chapter concludes with a convenient reminder of the important issues to address in the surgical pathology report. Indispensable for staff pathologists, residents, pathologist's assistants, histotechnologists and other laboratory personnel.




Neurofibromatosis Type 1


Book Description

Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.




Molecular Dissection of Complex Traits


Book Description

In the past 10 years, contemporary geneticists using new molecular tools have been able to resolve complex traits into individual genetic components and describe each such component in detail. Molecular Dissection of Complex Traits summarizes the state of the art in molecular analysis of complex traits (QTL mapping), placing new developments in thi




Genetic Susceptibility to Infectious Diseases


Book Description

Infectious diseases are commonly regarded as a distinct category, with different causes and patterns than chronic or genetic disease. But in fact there are many varieties of genetic susceptibility to infection, the subject of this book, which will be divided into three sections: 1) concepts and methods, 2) genes and pathophysiologic mechanisms, and 3) infectious agents and diseases. No currently plubished text on either genetics or infectious diseases focuses on the genetic aspects of the special relationship between host and pathogen in the way envisioned for Section 1. No other work on the selected genes regulating immunity deals as systematically with the sequence variation/function relationships most pertinent to infection as planned for Section 2. And no other book gives as meaningful a picture of how these genes operate in infectious disease as Section 3 will.




Colorectal Surgery Consultation


Book Description

This book provides clear surgical options when the cases are not “routine”. It follows both a “how to” manual as well as an algorithm-based guide to allow the reader to understand the thought process behind the proposed treatment strategy. In each chapter, international experts address how to avoid being in tough surgical situations through preoperative planning, how to better deal with commonly encountered intra-operative findings, how to deal with difficult laparoscopic, open, endoscopic, and anorectal cases, and how to avoid medico-legal issues. Colorectal Surgery Consultation is simple and succinct and provides pragmatic advice and reproducible techniques that can be readily implemented by surgeons of varying experience to successfully treat complex colorectal problems through endoscopic and endoluminal approaches that may make the difference in patient outcomes.




Chagas Disease:History of a Continent's Scourge


Book Description

In Chagas Disease: History of a Continent's Scourge, Francois Delaporte describes how the interaction of public health policy with medical knowledge and epistemological transformations in the period 1900-1935 can account for the discovery of a continental endemic. It also deconstructs the myths that surround a number of major medical discoveries in both Brazil and Argentina.




Genetics and the Logic of Evolution


Book Description

In this book the authors draw on what is known, largely from recent research, about the nature of genes and cells, the genetics of development and animal and plant body plans, intra- and interorganismal communication, sensation and perception, to propose that a few basic generalizations, along with the modified application of the classical evolutionary theory, can provide a broader theoretical understanding of genes, evolution, and the diverse and complex nature of living organisms.




Making Sense of Genes


Book Description

What are genes? What do genes do? These seemingly simple questions are in fact challenging to answer accurately. As a result, there are widespread misunderstandings and over-simplistic answers, which lead to common conceptions widely portrayed in the media, such as the existence of a gene 'for' a particular characteristic or disease. In reality, the DNA we inherit interacts continuously with the environment and functions differently as we age. What our parents hand down to us is just the beginning of our life story. This comprehensive book analyses and explains the gene concept, combining philosophical, historical, psychological and educational perspectives with current research in genetics and genomics. It summarises what we currently know and do not know about genes and the potential impact of genetics on all our lives. Making Sense of Genes is an accessible but rigorous introduction to contemporary genetics concepts for non-experts, undergraduate students, teachers and healthcare professionals.