Genomics 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 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

Produk Detail:

  • Author : Claudia Gonzaga-Jauregui
  • Publisher : Academic Press
  • Pages : 316 pages
  • ISBN : 0128204362
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKGenomics of Rare Diseases

Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher : Academic Press
  • Release : 12 June 2021
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

Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher : Elsevier
  • Release : 09 July 2021
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

Rare Diseases

Rare Diseases
  • Author : Zhan He Wu
  • Publisher : BoD – Books on Demand
  • Release : 25 March 2020
GET THIS BOOKRare Diseases

Rare diseases are a group of genetic disorders occurring in a small percentage of the population with the conditions being chronic but incurable. Approximately 7000 to 8000 different types have been identified and about 350 million people globally are affected in childhood and adulthood, resulting in enormous physical, mental, and psychological suffering and financial burden. It is imperative for medical scientists, clinicians, communities, and societies to ensure appropriate care is applied to ease the suffering of such patients. The extraordinary and unprecedented hallmark

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
  • Author : Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
  • Publisher : Frontiers Media SA
  • Release : 03 March 2020
GET THIS BOOKApplying Next Generation Sequencing and Transgenic Models to Rare Disease Research

A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare

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 : 03 April 2011
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.

Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease
  • Author : Xiaoyi Raymond Gao
  • Publisher : Academic Press
  • Release : 12 September 2019
GET THIS BOOKGenetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients,

The Genome Odyssey

The Genome Odyssey
  • Author : Dr. Euan Angus Ashley
  • Publisher : Celadon Books
  • Release : 23 February 2021
GET THIS BOOKThe Genome Odyssey

In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to

Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher : Academic Press
  • Release : 10 November 2014
GET THIS BOOKClinical Genomics

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging

Precision Public Health

Precision Public Health
  • Author : Tarun Weeramanthri,Hugh Dawkins,Gareth Baynam,Matthew Bellgard,Ori Gudes,James Semmens
  • Publisher : Frontiers Media SA
  • Release : 25 June 2018
GET THIS BOOKPrecision Public Health

Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are

The Human Genome in Health and Disease

The Human Genome in Health and Disease
  • Author : Tore Samuelsson
  • Publisher : Garland Science
  • Release : 07 February 2019
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

Genomic and Precision Medicine

Genomic and Precision Medicine
  • Author : Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
  • Publisher : Academic Press
  • Release : 30 March 2017
GET THIS BOOKGenomic and Precision Medicine

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as

Role of Biomarkers in Medicine

Role of Biomarkers in Medicine
  • Author : Mu Wang,Frank Witzmann
  • Publisher : BoD – Books on Demand
  • Release : 17 August 2016
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