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  • Book
    Manuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft, editors.
    Summary: This second edition of the book about Rare Diseases Epidemiology aims to highlight the progress of rare diseases research and related activities since the first volume published. As with the previous book, this update provides a comprehensive list of issues and adds new authors who are leaders in their different areas of expertise related to rare diseases at national and international levels. Rare diseases and orphan drugs are challenges for patients and families but also for physicians, researchers, and policy-makers in both the public and private sectors. This book aims to help all of them to address topics like health care policies, societal issues and clinical and experimental research. Readers will discover methods and procedures to address a variety of questions like cases of undiagnosed rare diseases, patient registries and biobanks, health care and public health approach to rare diseases, orphan drugs and new therapies, cost-effectiveness analyses, prevention, clinical and epidemiology of individual and groups of related rare diseases, novel advances in study design and data analyses, national and international policies and social issues. Within each one of these general issues, advances, new challenges and opportunities to address significant health care issues are described across thirty-two chapters. Editors and all authors providing chapters include globally recognized experts in different areas of rare diseases, including epidemiology, public health, health economics and pharmacology, statistics, and basic, clinical and translational research. People engaged in policy formulation decisions on rare diseases as well as patient representatives relate their own point of view about social constraints they live under on a daily basis. Renowned research investigators, highly-skilled clinicians, and recognized patient leaders are included as contributing authors to this new book about rare diseases. In fact, two of the editors are the current President and President Elect of the International Conference on Rare Diseases and Orphan Drugs and the third one is a board member of this society. The book has been written for all stakeholders but mainly for those involved in the many issues related to rare diseases. They can discover new ways for dealing with important matters related to the prevention, diagnosis, natural history, treatments, and research of rare diseases and the development of orphan products. .

    Part I Introduction
    Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data
    Part II Rare diseases diagnosis
    Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis
    Intellectual disability & rare disorders: A diagnostic challenge
    Improved diagnosis and care for rare diseases through implementation of a precision public health framework
    Part III Registries, Natural History of Rare Diseases and Biobanks
    Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease
    Facilitating Clinical Studies in Rare Diseases
    Rare Diseases Biospecimens and patient registries: Interoperability for research promotion, a European example: EuroBioBank and Spain RDR-BioNER
    Data Quality in Rare Diseases Registries
    Preparing data at the source to foster interoperability across r are disease resources
    Part IV Orphan drugs and therapies
    Incentivizing orphan product development: United States Food and Drug Administration orphan incentive programs
    Post-approval Studies for Rare Disease Treatments and Orphan Drugs
    Evidence-Based Medicine and Rare Diseases
    Health technology assessment and appraisal of therapies for rare diseases
    New Therapeutic Uses for Existing Drugs
    Patient empowerment and involvement in research
    Part V Cost-Effectiveness and Cost-of-illness
    Cost-effectiveness methods and newborn screening assessment
    Cost-of-illness in rare diseases
    Part VI Rare Diseases Prevention
    Primary prevention of congenital anomalies: special focus on environmental chemicals and other toxicants, maternal health and health services and infectious diseases
    Newborn Screening: Beyond the Spot
    Part VII New Research Perspectives in RD
    A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
    Prospects of Pluripotent and Adult Stem Cells for Rare Diseases
    Personalized Medicine: What?s in for Rare Diseases?
    Microphysiological systems (tissue chips) and their utility for rare disease research
    Part VIII Rare Diseases Epidemiology
    Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge
    Rare neurodegenerative diseases: clinical and genetic aspects
    Immunological rare diseases
    Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
    Mortality Statistics and their Contribution to Improving Rare Diseases Epidemiology: the Example of Hereditary Ataxia in Europe
    Congenital Anomalies: Cluster detection and investigation
    Part IX Rare Diseases policies and society
    The European Union Policy in the Field of Rare Diseases
    The role of solidarity(-ies) in rare diseases research
    Bridging the gap between health and social care for rare diseases: key issues and innovative solutions
    Health systems sustainability and rare diseases
    Preparing for the Future of Rare Diseases
    Digital Access Springer 2017