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 -- Index.

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. .

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