Genomics of Rare Diseases

• Author : Claudia Gonzaga-Jauregui,James R. Lupski
• Publisher : Academic Press
• Release : 15 March 2021

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

• Author : James R. Lupski,Pawel T. Stankiewicz
• Publisher : Springer Science & Business Media
• Release : 10 November 2007

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic

• Author : Xiaoyi Raymond Gao
• Publisher : Academic Press
• Release : 12 September 2019

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,

• Author : Ana Sanfilippo and
• Publisher : Unknown Publisher
• Release : 20 April 2017

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

• 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

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.

• Author : Jules J. Berman
• Publisher : Academic Press
• Release : 26 May 2014

Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often

• Author : United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
• Publisher : Unknown Publisher
• Release : 25 February 2021

• Author : Mu Wang,Frank Witzmann
• Publisher : BoD – Books on Demand
• Release : 17 August 2016

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

• Author : Victoria Jackson
• Publisher : Simon and Schuster
• Release : 26 September 2017

"The Power of Rare is equal parts science and inspiration. In her urgent drive to help her daughter, Victoria Jackson not only transformed the competitive world of biomedical research, but also created a new medical model for generations to come." —Arianna Huffington Victoria Jackson revolutionized the beauty industry in the 1980s and '90s with her "no make-up" approach to make-up and ultimately made Victoria Jackson Cosmetics into a billion-dollar global brand. But her greatest test of the power of

• Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
• Publisher : Academic Press
• Release : 07 June 2016

This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of

• Author : Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
• Publisher : Frontiers Media SA
• Release : 03 March 2020

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

• 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 : 15 April 2020

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

• Author : Christophe Lambert,Darrol Baker,George P. Patrinos
• Publisher : Academic Press
• Release : 02 August 2018

Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data

• Author : V. Arunachalam
• Publisher : Elsevier
• Release : 01 December 2011

Bioinformatics offers novel tools and resources to analyze plant genomes and genes. The complete genomes of two important commercial palms (dates and oil palm) have recently been sequenced. This offers scope for many computational tools to decipher the synteny, collinearity and common and unique genes of palms. This book reviews the latest developments in this field. Includes the latest information on the molecular breeding and bioinformatics of palms Covers past and current work and future opportunities Written in simple language

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

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