Approaching Complex Diseases
Approaching Complex Diseases

Author: Mariano Bizzarri

Publisher: Springer Nature

Published: 2020-04-17

Total Pages: 493

ISBN-13: 3030328570

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This volume – for pharmacologists, systems biologists, philosophers and historians of medicine – points to investigate new avenues in pharmacology research, by providing a full assessment of the premises underlying a radical shift in the pharmacology paradigm. The pharmaceutical industry is currently facing unparalleled challenges in developing innovative drugs. While drug-developing scientists in the 1990s mostly welcomed the transformation into a target-based approach, two decades of experience shows that this model is failing to boost both drug discovery and efficiency. Selected targets were often not druggable and with poor disease linkage, leading to either high toxicity or poor efficacy. Therefore, a profound rethinking of the current paradigm is needed. Advances in systems biology are revealing a phenotypic robustness and a network structure that strongly suggest that exquisitely selective compounds, compared with multitarget drugs, may exhibit lower than desired clinical efficacy. This appreciation of the role of polypharmacology has significant implications for tackling the two major sources of attrition in drug development, efficacy and toxicity. Integrating network biology and polypharmacology holds the promise of expanding the current opportunity space for druggable targets.

Approaches to Gene Mapping in Complex Human Diseases
Approaches to Gene Mapping in Complex Human Diseases

Author: Jonathan L. Haines

Publisher: Wiley-Liss

Published: 1998-10-08

Total Pages: 472

ISBN-13:

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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.

Bioinformatics for Diagnosis, Prognosis and Treatment of Complex Diseases
Bioinformatics for Diagnosis, Prognosis and Treatment of Complex Diseases

Author: Bairong Shen

Publisher: Springer Science & Business Media

Published: 2013-11-25

Total Pages: 219

ISBN-13: 9400779755

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The book introduces the bioinformatics tools, databases and strategies for the translational research, focuses on the biomarker discovery based on integrative data analysis and systems biological network reconstruction. With the coming of personal genomics era, the biomedical data will be accumulated fast and then it will become reality for the personalized and accurate diagnosis, prognosis and treatment of complex diseases. The book covers both state of the art of bioinformatics methodologies and the examples for the identification of simple or network biomarkers. In addition, bioinformatics software tools and scripts are provided to the practical application in the study of complex diseases. The present state, the future challenges and perspectives were discussed. The book is written for biologists, biomedical informatics scientists and clinicians, etc. Dr. Bairong Shen is Professor and Director of Center for Systems Biology, Soochow University; he is also Director of Taicang Center for Translational Bioinformatics.

Analysis of Complex Disease Association Studies
Analysis of Complex Disease Association Studies

Author: Eleftheria Zeggini

Publisher: Academic Press

Published: 2010-11-17

Total Pages: 353

ISBN-13: 0123751438

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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

Genomics of Rare Diseases
Genomics of Rare Diseases

Author: Claudia Gonzaga-Jauregui

Publisher: Academic Press

Published: 2021-06-12

Total Pages: 318

ISBN-13: 0128204362

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Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Medical Biostatistics for Complex Diseases
Medical Biostatistics for Complex Diseases

Author: Frank Emmert-Streib

Publisher: John Wiley & Sons

Published: 2010-03-30

Total Pages: 412

ISBN-13: 9783527630349

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A collection of highly valuable statistical and computational approaches designed for developing powerful methods to analyze large-scale high-throughput data derived from studies of complex diseases. Such diseases include cancer and cardiovascular disease, and constitute the major health challenges in industrialized countries. They are characterized by the systems properties of gene networks and their interrelations, instead of individual genes, whose malfunctioning manifests in pathological phenotypes, thus making the analysis of the resulting large data sets particularly challenging. This is why novel approaches are needed to tackle this problem efficiently on a systems level. Written by computational biologists and biostatisticians, this book is an invaluable resource for a large number of researchers working on basic but also applied aspects of biomedical data analysis emphasizing the pathway level.

Definition of Serious and Complex Medical Conditions
Definition of Serious and Complex Medical Conditions

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1999-10-19

Total Pages: 127

ISBN-13: 0309172608

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In response to a request by the Health Care Financing Administration (HCFA), the Institute of Medicine proposed a study to examine definitions of serious or complex medical conditions and related issues. A seven-member committee was appointed to address these issues. Throughout the course of this study, the committee has been aware of the fact that the topic addressed by this report concerns one of the most critical issues confronting HCFA, health care plans and providers, and patients today. The Medicare+Choice regulations focus on the most vulnerable populations in need of medical care and other services-those with serious or complex medical conditions. Caring for these highly vulnerable populations poses a number of challenges. The committee believes, however, that the current state of clinical and research literature does not adequately address all of the challenges and issues relevant to the identification and care of these patients.

Genome Editing in Neurosciences
Genome Editing in Neurosciences

Author: Rudolf Jaenisch

Publisher:

Published: 2020-10-08

Total Pages: 128

ISBN-13: 9781013268564

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Innovations in molecular biology are allowing neuroscientists to study the brain with unprecedented resolution, from the level of single molecules to integrated gene circuits. Chief among these innovations is the CRISPR-Cas genome editing technology, which has the precision and scalability to tackle the complexity of the brain. This Colloque Médecine et Recherche has brought together experts from around the world that are applying genome editing to address important challenges in neuroscience, including basic biology in model organisms that has the power to reveal systems-level insight into how the nervous system develops and functions as well as research focused on understanding and treating human neurological disorders. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.