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- rare disease
- orphan disease
- diagnosis
- treatment
- genetics
- etiology
- pathology
- undiagnosed diseases
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- PubMedSearches MEDLINE, which is the primary source of journal articles for the health sciences (fields of medicine, nursing, dentistry, veterinary medicine, public health, health care systems, and basic sciences). Coverage is from the 1940s to the present. View this tutorial to learn how to go from a general idea to a very precise set of results of journal articles and scholarly materials.
- CINAHL Ultimate (Nursing & Allied Health)Covers nursing and allied health journal articles, book chapters, and dissertations, as well as providing summarized evidence-based resources such as care sheets and quick lessons.
- Consumer Health CompleteComprehensive resource for consumer-oriented health content. It is designed to support the information needs of patients, and to foster an overall understanding of health-related topics. CHC provides content covering all areas of health and wellness from mainstream medicine to the many perspectives of complementary, holistic and integrated medicine. This full-text database covers topics such as aging, cancer, diabetes, drugs & alcohol, fitness, nutrition & dietetics, children's health, men & women's health, etc.
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Sample ebooks
Rare disease drug development : clinical, scientific, patient, and caregiver perspectives by ISBN: 9783030786052Publication Date: 2021This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients. A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development. Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers.
Genomics of Rare Diseases by ISBN: 9780128204368Publication Date: 2021-06-12Genomics 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.
Communicating Rare Diseases and Disorders in the Digital Age by ISBN: 9781799820895Publication Date: 2020-01-03A primary concern of rare disease diagnosis is the lack of accurate information that may lead to delayed interventions, administering inaccurate treatments, and social consequences. Health communication continues to be one-way and rely on the expertise from the health practitioner. In such a broad spectrum of rare diseases, patients may find it difficult to obtain timely information, accurate diagnosis, and appropriate treatments, surgeries, medications, or psychological counseling in their own countries. The use of information and communication technologies can create new communication channels that address this lack of knowledge. Communicating Rare Diseases and Disorders in the Digital Age is an essential reference source that uses computer-mediated communication to improve patient knowledge when afflicted or dealing with rare health conditions. Featuring research on topics such as support networking, eHealth management, and social computing, this book is ideally designed for health practitioners, physicians, patients, medical administrators, nurses, surgeons, infectious disease educators, hospital directors, world health organizations, academicians, students, and researchers seeking coverage on current advances in health communication, computer science, and epidemiology.
Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
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 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.
Psychosocial Considerations for Children and Adolescents Living with Rare Diseases
2020
This Special Issue of the journal Children constitutes an opportune moment to reflect on the psychosocial needs of children living with rare diseases and of their families. As medical advances, treatments, and developments have enabled many of these children to survive infancy and to live into adulthood, progress brings with it concerns and opportunities to enhance the psychosocial quality of life of children living with rare diseases, and of their families. This Special Issue reflects the current state of psychosocial research, which is primarily qualitative in nature. There are no scientifically rigorous randomized clinical trials to create an evidence base of effective psychosocial interventions for the provision of care to children with rare diseases and to their families; nevertheless, the papers within this Special Issue provide a reflection on the state of the science, including ideas about future research and practice. In this next section we share observations about the contributions made by each of the 13 articles, which cover a diverse range of topics.
Collaboration: a key to unlock the challenges of rare diseases research
2022
There are a staggering 6000 to 8000 life-threatening rare diseases each affecting no more than 5 in 10,000 people. It is estimated that altogether rare diseases affect around 30 million people in the European Union. Many rare diseases manifest themselves during childhood and are chronic disabling conditions, resulting in a shortened lifespan and causing significant suffering to the people living with them as well as their families. Those affected by rare diseases often spend years enduring a "diagnostic odyssey" before receiving the correct diagnosis, if they receive it at all. About 95% of the known rare diseases lack any approved treatments, representing an enormous unmet medical need. Rare disease patients often need highly specialised healthcare and social services, resulting in time lost to finding the right services and high costs for their families and for society. Each rare disease affects a small number of people, each with its specificities, leading to a scarcity and a fragmentation of knowledge and expertise. This is why rare diseases are recognised as a field in which European and international collaboration are indispensable to improve diagnosis and find treatments.
Rare Genetic Disorders : Advancements in Diagnosis and Treatment by ISBN: 9789819993222Publication Date: 2024-05-08This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.
Additional links:
Genetic and Rare Diseases (GARD) Information Center
Provides support for patients and families by providing reliable and understandable information on rare diseases. This is a newly redesigned website and undergoing updates regularly.
National Organization for Rare Disorders (NORD) Rare Disease Information for Clinicians and Researchers
Education for medical professionals on rare diseases (including CMEs), online physician guides and information to give to patients, links for applying for research grants, and more.
Rare Diseases Registry Program (RaDaR)
This site provides the rare diseases community with easily accessible guidance on how to set up and maintain high-quality registries, usually focused on a specific diagnosis or condition. The goal is to enable rare diseases patient organizations to better promote and support patient-focused research.
Rare Diseases Community Resources (NIH)
Explore free materials and resources to help patients, health care providers, scientists, etc. to learn about rare diseases and help advance research on them.
Rare Action Network
A patient advocacy organization committed to the identification, treatment, and cure of rare disorders through education, advocacy, research, and patient services.
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