Ngs Technologies Of Rare Diseases Diagnosis
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Ngs Technologies Of Rare Diseases Diagnosis
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Author : María L. Couce
language : en
Publisher: Frontiers Media SA
Release Date : 2022-12-05
Ngs Technologies Of Rare Diseases Diagnosis written by María L. Couce and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-12-05 with Science categories.
Next Generation Sequencing Ngs For Rare Diseases Diagnosis
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Author : Xiu-An Yang
language : en
Publisher: Frontiers Media SA
Release Date : 2022-01-28
Next Generation Sequencing Ngs For Rare Diseases Diagnosis written by Xiu-An Yang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-28 with Science categories.
Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii
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Author : Xiu-An Yang
language : en
Publisher: Frontiers Media SA
Release Date : 2023-07-31
Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii written by Xiu-An Yang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-07-31 with Science categories.
Clinical Applications For Next Generation Sequencing
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Author : Urszula Demkow
language : en
Publisher: Academic Press
Release Date : 2015-09-10
Clinical Applications For Next Generation Sequencing written by Urszula Demkow and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-10 with Science categories.
Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies
Genomics Of Rare Diseases
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Author : Claudia Gonzaga-Jauregui
language : en
Publisher: Academic Press
Release Date : 2021-06-12
Genomics Of Rare Diseases written by Claudia Gonzaga-Jauregui and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-06-12 with Medical categories.
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
Rare Genetic Disorders
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Author : Muhammad Umair
language : en
Publisher: Springer Nature
Release Date :
Rare Genetic Disorders written by Muhammad Umair and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on with categories.
Rare Diseases Diagnosis Therapies And Hope
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Author : Ana Sanfilippo and
language : en
Publisher:
Release Date : 2017-04-12
Rare Diseases Diagnosis Therapies And Hope written by Ana Sanfilippo and and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-12 with categories.
This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. "These rare diseases are collectively so common, affecting over 300 million globally," said co-author Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was a year long process to examine the topic from all sides. The book brings together interviews with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. "We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases," said co-author Ana Sanfilippo. The book includes expert interviews and remarkable stories from families like: - Amylynne Volker whose son was the first child saved through DNA sequencing -Dallas police officer Mark Dant who raised over $3 million for research that saved his son Ryan's life -John Crowley, who saved his own children's lives through creating a new company to develop a new drug, which is now the standard of care -Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note that there is no markup on the book.
Rare Diseases Diagnosis Therapies And Hope
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Author : Ana Sanfilippo
language : en
Publisher:
Release Date : 2014-07-01
Rare Diseases Diagnosis Therapies And Hope written by Ana Sanfilippo and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-01 with categories.
This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Amazon book price only.
Applying Next Generation Sequencing And Transgenic Models To Rare Disease Research
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Author : Arvin M. Gouw
language : en
Publisher:
Release Date : 2020
Applying Next Generation Sequencing And Transgenic Models To Rare Disease Research written by Arvin M. Gouw and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020 with categories.
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.
Emerging Technologies Powering Rare And Neglected Disease Diagnosis And Therapy Development
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Author : Zhichao Liu
language : en
Publisher: Frontiers Media SA
Release Date : 2022-05-03
Emerging Technologies Powering Rare And Neglected Disease Diagnosis And Therapy Development written by Zhichao Liu and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-05-03 with Science categories.