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.