Genomics of Rare Diseases

Written By Claudia Gonzaga-Jauregui
Genomics of Rare Diseases
  • Publsiher : Academic Press
  • Release : 15 March 2021
  • ISBN : 9780128201404
  • Pages : 304 pages
  • Rating : /5 from reviews
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Download or read book entitled Genomics of Rare Diseases by author: Claudia Gonzaga-Jauregui which was release on 15 March 2021 and published by Academic Press with total page 304 pages . This book available in PDF, EPUB and Kindle Format. It is estimated that approximately 350 million people worldwide are affected by a rare disorder. While individually rare, as a group, rare diseases constitute a substantial healthcare problem. The majority of these rare diseases have a significant genetic component, either as a penetrant driver of the disorder or as a major susceptibility factor for developing the disease. Many patients can go undiagnosed for decades while receiving inappropriate and costly treatments for their condition uninformed by the actual molecular defect and the underlying biology of disease. Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad but deep understanding of our current knowledge of rare diseases through a genomics lens and examines what this teaches us about disease biology. A clear understanding of the latest molecular and genomic technologies that have already been used to elucidate the molecular causes of more than 5,000 genetic disorders will bring readers closer to unraveling the many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that studying these disorders provide 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 methodology, 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

Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher : Academic Press
  • Release Date : 2021-03-15
  • Total pages : 304
  • ISBN : 9780128201404
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Summary : It is estimated that approximately 350 million people worldwide are affected by a rare disorder. While individually rare, as a group, rare diseases constitute a substantial healthcare problem. The majority of these rare diseases have a significant genetic component, either as a penetrant driver of the disorder or as a major ...

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 Date : 2020-03-03
  • Total pages : 212
  • ISBN : 9780128201404
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Summary : 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 ...

Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher : Academic Press
  • Release Date : 2021-06-25
  • Total pages : 316
  • ISBN : 9780128201404
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Summary : 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 ...

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
  • Total pages : 212
  • ISBN : 9780128201404
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Summary : Read online Advancing Genomics for Rare Disease Diagnosis and Therapy Development written by Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts, published by Frontiers Media SA which was released on 2020-12-08. Download full Advancing Genomics for Rare Disease Diagnosis and Therapy Development Books now! Available in PDF, ...

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope
  • Author : Ana Sanfilippo,Jimmy Lin
  • Publisher : Unknown
  • Release Date : 2014-07-01
  • Total pages : 212
  • ISBN : 9780128201404
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Summary : 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 ...

Rare Diseases

Rare Diseases
  • Author : D. Taruscio
  • Publisher : Unknown
  • Release Date : 2014-02-11
  • Total pages : 60
  • ISBN : 9780128201404
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Summary : This special topic issue of 'Public Health Genomics' contains contributions discussing the subject in-depth. 'Public Health Genomics' is a well-respected, international peer-reviewed journal in Genetics. Special topic issues are included in the subscription....

Rare Diseases Amazon

Rare Diseases  Amazon
  • Author : Ana Sanfilippo and
  • Publisher : Unknown
  • Release Date : 2014-05-30
  • Total pages : 212
  • ISBN : 9780128201404
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Summary : 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 ...

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope
  • Author : Ana Sanfilippo and
  • Publisher : Unknown
  • Release Date : 2017-04-12
  • Total pages : 212
  • ISBN : 9780128201404
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Summary : 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 ...

Public Health Genomics

Public Health Genomics
  • Author : Paul Lacaze,Gareth Baynam
  • Publisher : Frontiers Media SA
  • Release Date : 2019-10-17
  • Total pages : 212
  • ISBN : 9780128201404
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Summary : The use of human genetic data has the potential to significantly improve healthcare, however a range of scientific, ethical and practical implementation barriers remain....

Genomics

Genomics
  • 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 Date : 2020-04-15
  • Total pages : 200
  • ISBN : 9780128201404
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Summary : 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 ...

WA Rare Diseases Strategic Framework 2015 2018

WA Rare Diseases Strategic Framework 2015 2018
  • Author : Western Australia. Office of Population Health Genomics
  • Publisher : Unknown
  • Release Date : 2017
  • Total pages : 28
  • ISBN : 9780128201404
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Summary : Read online WA Rare Diseases Strategic Framework 2015 2018 written by Western Australia. Office of Population Health Genomics, published by which was released on 2017. Download full WA Rare Diseases Strategic Framework 2015 2018 Books now! Available in PDF, ePub and Kindle....

Genetic Breakthroughs Their Implications for You and Your Health Collection

Genetic Breakthroughs  Their Implications for You and Your Health  Collection
  • Author : Moyra Haig H. Kazazian Greg Gibson
  • Publisher : Unknown
  • Release Date : 2012
  • Total pages : 864
  • ISBN : 9780128201404
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Summary : 3 cutting-edge books reveal the latest genetic breakthroughs - and their implications for you, your health, and your world These three cutting-edge books reveal how modern genetics has already transformed the world - and will transform it again and again in the coming years. Mobile DNA book thoroughly reviews our current ...

Genetics and Genomics in Medicine

Genetics and Genomics in Medicine
  • Author : Tom Strachan,Judith Goodship,Patrick Chinnery
  • Publisher : Garland Pub
  • Release Date : 2014-05-27
  • Total pages : 526
  • ISBN : 9780128201404
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Summary : "Genetics and Genomics in Medicine is a new textbook written for undergraduate and graduate students, as well as medical researchers, which explains the science behind the uses of genetics and genomics in medicine today. It is not just about rare inherited and chromosomal disorders, but how genetics affects the whole ...

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease
  • Author : Roger N. Rosenberg,Juan M. Pascual
  • Publisher : Elsevier
  • Release Date : 2014-10-28
  • Total pages : 1464
  • ISBN : 9780128201404
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Summary : 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 ...

Investigating the Human Genome

Investigating the Human Genome
  • Author : Moyra Smith
  • Publisher : FT Press
  • Release Date : 2011-06-08
  • Total pages : 256
  • ISBN : 9780128201404
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Summary : Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the ...