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Genomics Of Rare Diseases

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Genomics of Rare Diseases

Genomics of Rare Diseases Book
Author : Claudia Gonzaga-Jauregui,James R. Lupski
Publisher : Academic Press
Release : 2021-06-01
ISBN : 0128204362
Language : En, Es, Fr & De

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Book Description :

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

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

Advancing Genomics for Rare Disease Diagnosis and Therapy Development Book
Author : Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts
Publisher : Frontiers Media SA
Release : 2020-12-08
ISBN : 2889661628
Language : En, Es, Fr & De

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Book Description :

Download Advancing Genomics for Rare Disease Diagnosis and Therapy Development book written by Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Book
Author : Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
Publisher : Frontiers Media SA
Release : 2020-03-03
ISBN : 2889635244
Language : En, Es, Fr & De

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Book Description :

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.

Rare Diseases in the Age of Health 2 0

Rare Diseases in the Age of Health 2 0 Book
Author : Rajeev K. Bali,Lodewijk Bos,Michael Christopher Gibbons,Simon Ibell
Publisher : Springer Science & Business Media
Release : 2013-10-21
ISBN : 3642386431
Language : En, Es, Fr & De

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Book Description :

This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope Book
Author : Ana Sanfilippo,Jimmy Lin
Publisher : Unknown
Release : 2014-07-01
ISBN : 9781320056601
Language : En, Es, Fr & De

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Book Description :

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.

Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Book
Author : Helen V. Firth,Jane A. Hurst
Publisher : Oxford University Press
Release : 2017
ISBN : 0199557500
Language : En, Es, Fr & De

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Book Description :

Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Encyclopedia of Human Genetics and Disease

Encyclopedia of Human Genetics and Disease Book
Author : Evelyn B. Kelly
Publisher : ABC-CLIO
Release : 2012-11
ISBN : 0313387133
Language : En, Es, Fr & De

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Book Description :

This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. * Illustrations and photographs * An informative timeline of genetic study advancements * An annotated list of websites and helpful books

Physicians Guide to Rare Diseases

Physicians  Guide to Rare Diseases Book
Author : Anonim
Publisher : Unknown
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Physicians Guide to Rare Diseases book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Book
Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Release : 2014-10-28
ISBN : 0124105491
Language : En, Es, Fr & De

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Book Description :

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

ORL head and Neck Nursing

ORL head and Neck Nursing Book
Author : Anonim
Publisher : Unknown
Release : 2006
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download ORL head and Neck Nursing book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genomics Health and Society

Genomics  Health and Society Book
Author : Policy Research Initiative (Canada)
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Examines critical issues that will need to be addressed to realize the health and economic benefits that genomics promises, while managing the associated risks. Topics include: genetic medicine and privacy, issues of intellectual property, and implications for the developing world.

Genomics

Genomics Book
Author : Julian Parkhill,Sarah J. Lindsay,Phil Jones,Lia Chappell,Jonathon Roberts,Nancy Holroyd,Michal Spzak,Francesca (Wellcome Sanger Institute) Gale
Publisher : Oxford University Press, USA
Release : 2020-04-15
ISBN : 0198848382
Language : En, Es, Fr & De

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Book Description :

This Oxford Biology Primer will introduce students to the field of genomics and its applications. From the early days of the Human Genome Project, sequencing technology has rapidly developed and is now cheaper and more accessible than ever before. The resulting pervasive nature of these technologies make them more likely to be experienced by people as patients, consumers and citizens. The primer introduces the basic principles of genomics and then uses these to consider human genetics, through examples of some of the rare diseases linked to single genes. The impact of these rare diseases is far-reaching and the knowledge gained through genome sequencing is proving invaluable in their diagnosis. Genome sequencing is revolutionising the diagnosis and treatment of cancer, and the primer introduces students to some of the key breakthroughs which have taken place in recent years. These include the identification of specific genes indicating cancer risk, and the sequencing of tumours throughout treatment to identify further mutations and modify treatment accordingly. The primer aims to address a number of the ethical issues which are raised by this rapidly-growing area of biology. Students are challenged to consider some of the decisions they may need to make relating to these technologies in their own lives, and are given opportunities to explore different aspects of these issues in a way which allows discussion to be both informed and meaningful. The study of infectious disease is also feeling the impact of genomics: the primer discusses the concept of pathogen genome sequencing, and illustrates the various ways in which this can be used - for example, enabling us to find different solutions to infections, to track outbreaks of disease to their source, and to identify and possibly ultimately combat antibiotic resistance. Many of the major diseases which impact the global population are caused by parasites, which come in a wide variety of shapes and sizes. The primer introduces students to the importance of understanding parasite genomes. Parasite genome sequencing makes it possible to develop both new medicines, and new treatments such as gene drive systems to wipe out disease-causing mosquito populations. For many years, our views of classification and evolution have been based on observational techniques going back to Darwin and Linnaeus. Focusing on human evolution, the primer will open students' eyes to the ways in which genome sequencing is being used to reveal evolutionary links that have never before been recognised, and to elucidate the way humans spread out of Africa across the world. Students are not always aware of the role technological developments play in enabling the progress of science. The final chapter delves into how genome sequencing technologies have developed, considering both the speed of change in the technology, its implications for usefulness, availability and cost, and the growing issue of big data and how it can be manipulated. The different technologies described in this chapter are referenced throughout the book.

Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics

Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics Book
Author : Jean F. Jenkins
Publisher : Unknown
Release : 2006
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics book written by Jean F. Jenkins, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Annual Review of Genomics and Human Genetics

Annual Review of Genomics and Human Genetics Book
Author : Anonim
Publisher : Unknown
Release : 2009
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Annual Review of Genomics and Human Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genome Research

Genome Research Book
Author : Anonim
Publisher : Unknown
Release : 2005
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genome Research book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Encyclopedia of Genetics Genomics Proteomics and Bioinformatics Genetics

Encyclopedia of Genetics  Genomics  Proteomics  and Bioinformatics  Genetics Book
Author : Lynn B. Jorde
Publisher : Unknown
Release : 2005
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Encyclopedia of Genetics Genomics Proteomics and Bioinformatics Genetics book written by Lynn B. Jorde, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genomics Proteomics

Genomics   Proteomics Book
Author : Arthur L. Shaffer
Publisher : Unknown
Release : 2006
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genomics Proteomics book written by Arthur L. Shaffer, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Diversity and Genomics of the Immune Response

Genetic Diversity and Genomics of the Immune Response Book
Author : Daniel E. Geroghty
Publisher : Unknown
Release : 2002
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Diversity and Genomics of the Immune Response book written by Daniel E. Geroghty, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Applied Genomics and Proteomics

Applied Genomics and Proteomics Book
Author : Anonim
Publisher : Unknown
Release : 2003
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Applied Genomics and Proteomics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.