“Rare Diseases Epidemiology” is already available. The book offers numerous approaches to increase the knowledge base of rare diseases and conditions and to facilitate the development and dissemination of interventions for the prevention, diagnosis, or treatment of over 6500 diseases and conditions. “Rare Diseases Epidemiology” provides methods and approaches from the collective experiences of established research investigators who address these significant issues of the development of patient registries; the collection, storage and selected distribution of bio-specimens from bio-banking activities; the validation and utilization of genetic testing and newborn screening procedures; the presentation of issues related to the importance of case reports to increase knowledge of rare diseases; the challenges and models for population-based surveillance studies for rare congenital and inherited disorders; the statistical methods for the geographical analyses of rare diseases; the value and need for clinical trials and comparative effective studies; and meeting the requirements of regulatory agencies.
ICRDOD has contributed by taking part in the preparation of Chapter 26 of the book, “National Plans and Strategies on Rare Diseases in Europe”.
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