Rare Diseases Epidemiology Update and Overview [Hardcover]

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

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.-&nblsÖ