Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
Total Pages: 318
Release: 2021-06-12
Genre: Medical
ISBN: 0128204362

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

Improving Health in the Community

Improving Health in the Community
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 497
Release: 1997-05-21
Genre: Medical
ISBN: 0309055342

How do communities protect and improve the health of their populations? Health care is part of the answer but so are environmental protections, social and educational services, adequate nutrition, and a host of other activities. With concern over funding constraints, making sure such activities are efficient and effective is becoming a high priority. Improving Health in the Community explains how population-based performance monitoring programs can help communities point their efforts in the right direction. Within a broad definition of community health, the committee addresses factors surrounding the implementation of performance monitoring and explores the "why" and "how to" of establishing mechanisms to monitor the performance of those who can influence community health. The book offers a policy framework, applies a multidimensional model of the determinants of health, and provides sets of prototype performance indicators for specific health issues. Improving Health in the Community presents an attainable vision of a process that can achieve community-wide health benefits.

Understanding Zoonotic Diseases

Understanding Zoonotic Diseases
Author: Janet Amundson Romich
Publisher: Veterinary Technology
Total Pages: 701
Release: 2008
Genre: Medical
ISBN: 9781418021030

Understanding Zoonotic Diseases is written for both animal and human healthcare professionals and students that will help them understand specific zoonotic diseases. Designed as a stand-alone book, it introduces the reader to microbes including bacteria, fungi, parasites, viruses, and prions, and describes specific diseases that can be transmitted from animals to humans. Extensive use of images, photographs, tables, and clinically relevant comments helps the reader understand the role of animals in causing diseases in humans. Review questions at the end of each chapter and online critical thinking questions help the learner gain a deeper understanding of the material and aid in retention.

The Future of the Public's Health in the 21st Century

The Future of the Public's Health in the 21st Century
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 536
Release: 2003-02-01
Genre: Medical
ISBN: 0309133181

The anthrax incidents following the 9/11 terrorist attacks put the spotlight on the nation's public health agencies, placing it under an unprecedented scrutiny that added new dimensions to the complex issues considered in this report. The Future of the Public's Health in the 21st Century reaffirms the vision of Healthy People 2010, and outlines a systems approach to assuring the nation's health in practice, research, and policy. This approach focuses on joining the unique resources and perspectives of diverse sectors and entities and challenges these groups to work in a concerted, strategic way to promote and protect the public's health. Focusing on diverse partnerships as the framework for public health, the book discusses: The need for a shift from an individual to a population-based approach in practice, research, policy, and community engagement. The status of the governmental public health infrastructure and what needs to be improved, including its interface with the health care delivery system. The roles nongovernment actors, such as academia, business, local communities and the media can play in creating a healthy nation. Providing an accessible analysis, this book will be important to public health policy-makers and practitioners, business and community leaders, health advocates, educators and journalists.

Understanding Kidney Diseases

Understanding Kidney Diseases
Author: Hugh C. Rayner
Publisher: Springer
Total Pages: 398
Release: 2020-07-15
Genre: Medical
ISBN: 9783030430269

This book combines the reference material of a nephrology textbook with the everyday relevance of a clinical handbook. This second edition develops and expands upon the success of the first. All the content has been updated and entirely new chapters on acid-base disorders and stone disease have been added. Understanding Kidney Diseases includes over 60 real-life case studies and is illustrated with over 200 figures. Readers can test their knowledge with a bank of multiple-choice questions and put it into practice by answering questions that patients frequently ask. The book provides all that students, residents and fellows need in order to approach a patient with a kidney problem with confidence.

An Epidemic of Absence

An Epidemic of Absence
Author: Moises Velasquez-Manoff
Publisher: Simon and Schuster
Total Pages: 416
Release: 2013-09-17
Genre: Biography & Autobiography
ISBN: 1439199396

A controversial, revisionist approach to autoimmune and allergic disorders considers the perspective that the human immune system has been disabled by twentieth-century hygiene and medical practices.

Rare Diseases and Orphan Products

Rare Diseases and Orphan Products
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 442
Release: 2011-04-03
Genre: Medical
ISBN: 0309158060

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.

Ending Discrimination Against People with Mental and Substance Use Disorders

Ending Discrimination Against People with Mental and Substance Use Disorders
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 171
Release: 2016-09-03
Genre: Social Science
ISBN: 0309439124

Estimates indicate that as many as 1 in 4 Americans will experience a mental health problem or will misuse alcohol or drugs in their lifetimes. These disorders are among the most highly stigmatized health conditions in the United States, and they remain barriers to full participation in society in areas as basic as education, housing, and employment. Improving the lives of people with mental health and substance abuse disorders has been a priority in the United States for more than 50 years. The Community Mental Health Act of 1963 is considered a major turning point in America's efforts to improve behavioral healthcare. It ushered in an era of optimism and hope and laid the groundwork for the consumer movement and new models of recovery. The consumer movement gave voice to people with mental and substance use disorders and brought their perspectives and experience into national discussions about mental health. However over the same 50-year period, positive change in American public attitudes and beliefs about mental and substance use disorders has lagged behind these advances. Stigma is a complex social phenomenon based on a relationship between an attribute and a stereotype that assigns undesirable labels, qualities, and behaviors to a person with that attribute. Labeled individuals are then socially devalued, which leads to inequality and discrimination. This report contributes to national efforts to understand and change attitudes, beliefs and behaviors that can lead to stigma and discrimination. Changing stigma in a lasting way will require coordinated efforts, which are based on the best possible evidence, supported at the national level with multiyear funding, and planned and implemented by an effective coalition of representative stakeholders. Ending Discrimination Against People with Mental and Substance Use Disorders: The Evidence for Stigma Change explores stigma and discrimination faced by individuals with mental or substance use disorders and recommends effective strategies for reducing stigma and encouraging people to seek treatment and other supportive services. It offers a set of conclusions and recommendations about successful stigma change strategies and the research needed to inform and evaluate these efforts in the United States.

Vector-Borne Diseases

Vector-Borne Diseases
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 350
Release: 2008-04-18
Genre: Medical
ISBN: 0309108977

Vector-borne infectious diseases, such as malaria, dengue fever, yellow fever, and plague, cause a significant fraction of the global infectious disease burden; indeed, nearly half of the world's population is infected with at least one type of vector-borne pathogen (CIESIN, 2007; WHO, 2004a). Vector-borne plant and animal diseases, including several newly recognized pathogens, reduce agricultural productivity and disrupt ecosystems throughout the world. These diseases profoundly restrict socioeconomic status and development in countries with the highest rates of infection, many of which are located in the tropics and subtropics. Although this workshop summary provides an account of the individual presentations, it also reflects an important aspect of the Forum philosophy. The workshop functions as a dialogue among representatives from different sectors and allows them to present their beliefs about which areas may merit further attention. These proceedings summarize only the statements of participants in the workshop and are not intended to be an exhaustive exploration of the subject matter or a representation of consensus evaluation. Vector-Borne Diseases : Understanding the Environmental, Human Health, and Ecological Connections, Workshop Summary (Forum on Microbial Threats) summarizes this workshop.