Genomics Of Rare Diseases PDF Download
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Author | : Claudia Gonzaga-Jauregui |
Publisher | : Academic Press |
Total Pages | : 316 |
Release | : 2021-06-12 |
Genre | : Medical |
ISBN | : 0128204362 |
Download Genomics of Rare Diseases Book in PDF, ePub and Kindle
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
Author | : Claudia Gonzaga-Jauregui |
Publisher | : Elsevier |
Total Pages | : 316 |
Release | : 2021-06-25 |
Genre | : Medical |
ISBN | : 0128201401 |
Download Genomics of Rare Diseases Book in PDF, ePub and Kindle
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
Author | : Zhichao Liu |
Publisher | : Frontiers Media SA |
Total Pages | : 297 |
Release | : 2020-12-08 |
Genre | : Science |
ISBN | : 2889661628 |
Download Advancing Genomics for Rare Disease Diagnosis and Therapy Development Book in PDF, ePub and Kindle
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.
Author | : Weida Tong |
Publisher | : Frontiers Media SA |
Total Pages | : 400 |
Release | : 2023-09-07 |
Genre | : Science |
ISBN | : 283253323X |
Download Advancing genomics for rare disease diagnosis and therapy development vol II Book in PDF, ePub and Kindle
Author | : Arvin M. Gouw |
Publisher | : Frontiers Media SA |
Total Pages | : 119 |
Release | : 2020-03-03 |
Genre | : |
ISBN | : 2889635244 |
Download Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Book in PDF, ePub and Kindle
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 disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This Research Topic provides a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.
Author | : Manuel Posada de la Paz |
Publisher | : Springer |
Total Pages | : 675 |
Release | : 2017-12-06 |
Genre | : Medical |
ISBN | : 3319671448 |
Download Rare Diseases Epidemiology: Update and Overview Book in PDF, ePub and Kindle
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 patents and practicing physicians.
Author | : Xiu-An Yang |
Publisher | : Frontiers Media SA |
Total Pages | : 104 |
Release | : 2022-01-28 |
Genre | : Science |
ISBN | : 2889742032 |
Download Next Generation Sequencing (NGS) for Rare Diseases Diagnosis Book in PDF, ePub and Kindle
Author | : George P. Patrinos |
Publisher | : Academic Press |
Total Pages | : 406 |
Release | : 2019-11-13 |
Genre | : Science |
ISBN | : 0128136960 |
Download Applied Genomics and Public Health Book in PDF, ePub and Kindle
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, policy measures and economic evaluation in genomic medicine. This book is essential reading for researchers and students exploring applications of genomics to population and public health. In addition, it is ideal for those in the biomedical sciences, medical sociologists, healthcare professionals, nurses, regulatory bodies and health economists interested in learning more about this growing field. Explores the growing application of genomics to population and public health Features internationally renowned contributors from a variety of related fields Contains chapters on important topics such as genomic data sharing, genethics and public health genomics, genomics and sociology, and regulatory aspects of genomic medicine and pharmacogenomics
Author | : Muhammad Umair |
Publisher | : Springer Nature |
Total Pages | : 283 |
Release | : |
Genre | : |
ISBN | : 9819993237 |
Download Rare Genetic Disorders Book in PDF, ePub and Kindle
Author | : |
Publisher | : |
Total Pages | : 0 |
Release | : 2024 |
Genre | : |
ISBN | : |
Download Genomics of Rare Disease Book in PDF, ePub and Kindle