Genomics of Rare Diseases

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  • Publisher : Academic Press
  • Release : 12 June 2021
  • ISBN : 9780128204368
  • Page : 316 pages
  • Rating : 4.5/5 from 103 voters

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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

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Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher : Academic Press
  • Release Date : 2021-06-12
  • ISBN : 9780128204368
GET THIS BOOKGenomics of Rare Diseases

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

Applied Genomics and Public Health

Applied Genomics and Public Health
  • Author : George P. Patrinos
  • Publisher : Academic Press
  • Release Date : 2019-11-13
  • ISBN : 9780128136966
GET THIS BOOKApplied Genomics and Public Health

Applied Genomics and Public Health examines the interdisciplinary and growing area of how evidence-based genomic knowledge can be applied to public health, population health, healthcare and health policies. The book gathers experts from a variety of disciplines, including life sciences, social sciences, and health care to develop a comprehensive overview of the field. In addition, the book delves into subjects such as pharmacogenomics, genethics, big data, data translation and analysis, economic evaluation, genomic awareness and education, sociology, pricing and reimbursement,

Next Generation Sequencing (NGS) for Rare Diseases Diagnosis

Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
  • Author : Xiu-An Yang,Hu Hao,Yanling Yang,Can Liao
  • Publisher : Frontiers Media SA
  • Release Date : 2022-01-28
  • ISBN : 9782889742035
GET THIS BOOKNext Generation Sequencing (NGS) for Rare Diseases Diagnosis

Role of Biomarkers in Medicine

Role of Biomarkers in Medicine
  • Author : Mu Wang,Frank Witzmann
  • Publisher : BoD – Books on Demand
  • Release Date : 2016-08-17
  • ISBN : 9789535125051
GET THIS BOOKRole of Biomarkers in Medicine

The use of biomarkers in basic and clinical research has become routine in many areas of medicine. They are accepted as molecular signatures that have been well characterized and repeatedly shown to be capable of predicting relevant disease states or clinical outcomes. In Role of Biomarkers in Medicine, expert researchers in their individual field have reviewed many biomarkers or potential biomarkers in various types of diseases. The topics address numerous aspects of medicine, demonstrating the current conceptual status of biomarkers

Genomic Disorders

Genomic Disorders
  • Author : James R. Lupski,Pawel T. Stankiewicz
  • Publisher : Springer Science & Business Media
  • Release Date : 2007-11-10
  • ISBN : 9781597450393
GET THIS BOOKGenomic Disorders

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic

The Human Genome in Health and Disease

The Human Genome in Health and Disease
  • Author : Tore Samuelsson
  • Publisher : Garland Science
  • Release Date : 2019-02-07
  • ISBN : 9780429664298
GET THIS BOOKThe Human Genome in Health and Disease

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such

Understanding Genetics

Understanding Genetics
  • Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
  • Publisher : Lulu.com
  • Release Date : 2009
  • ISBN : 9780982162217
GET THIS BOOKUnderstanding Genetics

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care,

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

Advancing Genomics for Rare Disease Diagnosis and Therapy Development
  • Author : Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts
  • Publisher : Frontiers Media SA
  • Release Date : 2020-12-08
  • ISBN : 9782889661626
GET THIS BOOKAdvancing Genomics for Rare Disease Diagnosis and Therapy Development

Translational Cardiometabolic Genomic Medicine

Translational Cardiometabolic Genomic Medicine
  • Author : Annabelle Rodriguez-Oquendo
  • Publisher : Academic Press
  • Release Date : 2015-09-07
  • ISBN : 9780128004746
GET THIS BOOKTranslational Cardiometabolic Genomic Medicine

Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that

Precision Medicine and the Reinvention of Human Disease

Precision Medicine and the Reinvention of Human Disease
  • Author : Jules J. Berman
  • Publisher : Academic Press
  • Release Date : 2018-01-26
  • ISBN : 9780128143940
GET THIS BOOKPrecision Medicine and the Reinvention of Human Disease

Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups. We now know that every disease develops over time, through a sequence of defined biological steps, and that these steps may differ

Rare Diseases Epidemiology: Update and Overview

Rare Diseases Epidemiology: Update and Overview
  • Author : Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
  • Publisher : Springer
  • Release Date : 2017-12-06
  • ISBN : 9783319671444
GET THIS BOOKRare Diseases Epidemiology: Update and Overview

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by

Rare Diseases and Orphan Products

Rare Diseases and Orphan Products
  • Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development
  • Publisher : National Academies Press
  • Release Date : 2011-04-03
  • ISBN : 9780309158060
GET THIS BOOKRare Diseases and Orphan Products

Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

Medical and Health Genomics

Medical and Health Genomics
  • Author : Dhavendra Kumar,Stylianos Antonarakis
  • Publisher : Academic Press
  • Release Date : 2016-06-04
  • ISBN : 9780127999227
GET THIS BOOKMedical and Health Genomics

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its

Exome Sequence Analysis and Interpretation

Exome Sequence Analysis and Interpretation
  • Author : Vinod Scaria,Sridhar Sivasubbu
  • Publisher : Research in Genomics
  • Release Date : 2015-02-11
  • ISBN : 0987654321XXX
GET THIS BOOKExome Sequence Analysis and Interpretation

A concise handbook on exome sequencing for clinicians and clinical geneticists.

Perinatal Genetics

Perinatal Genetics
  • Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
  • Publisher : Elsevier Health Sciences
  • Release Date : 2019-01-23
  • ISBN : 9780323530965
GET THIS BOOKPerinatal Genetics

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles