Systems Analysis of Human Multigene Disorders PDF Download

Author: Natalia Maltsev
Publisher: Springer Science & Business Media
ISBN: 1461487781
Category : Science
Languages : en
Pages : 122

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Book Description
Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.

Author: Somchai Chutipongtanate
Publisher: Bentham Science Publishers
ISBN: 9815036769
Category : Medical
Languages : en
Pages : 256

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Book Description
Precision medicine is a disruptive innovation with a fast-evolving pace in the healthcare ecosystem. Precision medicine enables precise diagnosis and targeted treatment by considering individual variability in the abnormalities of causative genes and molecular drivers behind biochemical mechanisms. A vast amount of data created by advanced omics technologies is a foundation of precision medicine’s success, and the implications of the findings from these technologies can potentially improve clinical outcomes. Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine presents essential information of molecular and translational research in precision medicine, with a specific focus on pediatrics. This book provides an accessible introduction to omics technologies, gives a detailed explanation of bioinformatics workflows to interpret high-throughput omics profiles for molecular diagnosis, and collects some of the cutting-edge research for precise therapeutics. Contributions to the book have been provided by experts in biomedical engineering and clinical practice, thus, bringing an informed perspective to the reader on each topic. The book is a valuable resource for postgraduate students, researchers, data scientists and clinicians interested in precision medicine, as well as researchers in the field of genetics and pediatrics who are interested in understanding the role of precision medicine in clinical practice.

Author: Salvatore DiMauro
Publisher: CRC Press
ISBN: 9781842142882
Category : Medical
Languages : en
Pages : 368

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Book Description
Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.

Author: Munir Ozturk
Publisher: Elsevier
ISBN: 0323998437
Category : Technology & Engineering
Languages : en
Pages : 580

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Book Description
Synthesis of Bionanomaterials for Biomedical Applications summarizes a range of procedures, including green synthesis of metal nanoparticles, metal oxide nanoparticles, and other types of nanoparticles while also exploring the appropriate use of these nanoparticles in various therapeutic applications such as anticancer, antibacterial, antifungal, drug delivery, and more. The book provides important information for materials scientists and pharmaceutical scientists on the synthesis of various nanoparticles using a variety of eco-friendly bionanomaterials. As concern has arisen regarding the environmental impact caused by some of nanomaterials, as well as their possible toxicity to cells, this book presents information on a new generation of eco-friendly materials. In addition, the green synthesis of nanoparticles shows how environmentally-friendly nanoparticles can be synthesized from different biological sources, such as microbes, fungi, algae and plants. Provides information on the synthesis and application of eco-friendly bionanomaterials Offers coverage of nanomaterials generated through green synthesis Assesses the challenges of manufacturing eco-friendly nanomaterials on an industrial scale

Author: Philip R. Beales
Publisher: Oxford University Press
ISBN: 0199719861
Category : Medical
Languages : en
Pages : 300

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Book Description
Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Author: Elias I. Traboulsi
Publisher: OUP USA
ISBN: 0195326148
Category : Medical
Languages : en
Pages : 940

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Book Description
This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

Author:
Publisher: Academic Press
ISBN: 012814260X
Category : Medical
Languages : en
Pages : 442

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Book Description
This volume provides comprehensive information on how mapping an individual’s epigenome can be medically relevant and holds the potential to improve preventive medicine and precision therapeutics at an early-stage (prior to disease onset). In order to advance clinical adoption of the recently developed epigenetic approaches, it is necessary for translational scientists, clinicians, and students to gain a better understanding about epigenetic mechanisms that are associated with a particular disorder; and to be able to effectively identify biomarkers that can be applied in drug development and for better diagnosis and prognosis of diseases. Prognostic Epigenetics is the most-inclusive volume to-date specifically dedicated to epigenetic markers that have been developed for prognosis of diseases, recent advances in this field, the clinical implementation of this research, and the future outlook. Compiles all known information on prognostic epigenetics and its role in preventive medicine and drug discovery Covers the basic functionality of epigenetic mechanisms involved in early disease prognosis and diagnosis, and provides tools for the identification and development of these biomarkers for a wide range of diseases Enables clinicians, researchers, and pharmacologists to improve preventive medicine and precision therapeutics throughout a person’s lifetime Features chapter contributions from leading international researchers

Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453291
Category : Medical
Languages : en
Pages : 149

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Book Description
Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309224187
Category : Science
Languages : en
Pages : 354

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Book Description
Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Author: F. Bandello
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805599919
Category : Medical
Languages : en
Pages : 170

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Book Description
In the new book series ESASO Course Series, the essentials of the courses of the European School for Advanced Studies in Ophthalmology (ESASO) are made available to interested ophthalmologists, optometrists, technicians and residents all over the world. In this first volume, the seminars on retina presented by renowned experts during ESASO‘s activities are collected. The authors have incorporated their personal experience and full teaching acumen in their respective chapters. The topics range from molecular biology, to state-of-the-art diagnostic techniques and the newest medical treatment options.This book provides the ophthalmologist with the most recent data and evidence-based medicine on medical retina, and includes multiple areas still under debate. Because of its highly specific and updated information, focusing on the pathogenesis and management of retinal diseases, this publication is a must to all retina specialists.