| Contents |
Rare diseases-avoiding misperceptions and establishing realities : the need for reliable epidemiological data / Stephen C. Groft and Manuel Posada de la Paz -- Rare diseases epidemiology research / Manuel Posada de la Paz ... [et al.] -- Evidence-based medicine and rare diseases / Simon Day -- Prevention, diagnosis, and services / Eva Bermejo and María Luisa Martínez-Frías -- The importance of case reports in advancing scientific knowledge of rare diseases / John C. Carey -- Patient registries : utility, validity, and inference / Rachel Richesson and Kendra Vehik -- Biobanking in rare disorders / Hanns Lochmüller and Peter Schneiderat -- Evaluation of the validity and utility of genetic testing for rare diseases / Scott D. Grosse, Lisa Kalman, and Muin J. Khoury -- Population-based surveillance for rare congenital and inherited disorders : models and challenges / Jodi M. Jackson, Krista S. Crider, and Richard S. Olney -- Statistical methods for the geographical analysis of rare diseases / Virgilio Gómez-Rubio and Antonio López-Quílez -- Clinical trials and rare diseases / Joachim Werner Otto Gerss and Wolfgang Köpcke -- A regulatory overview about rare diseases / Jordi Llinares -- Economic considerations in the provision of treatments for rare diseases / Christopher McCabe, Richard Edlin, and Jeff Round -- Rare diseases social epidemiology : analysis of inequalities / Anna Kole and François Faurisson -- Quality of life and rare diseases / Luis Rajmil, Lilisbeth Perestelo-Pérez, and Michael Herdman -- Cost of illness and economic evaluation in rare diseases / Julio López-Bastida and Juan Oliva-Moreno -- The burden of rare cancers in Europe / Gemma Gatta ... [et al.] -- Hereditary channelopathies in neurology / Karin Jurkat-Rott ... [et al.] -- Osteochondral diseases and fibrodysplasia ossificans progressiva / Antonio Morales-Piga and Frederick S. Kaplan -- The prevalence of congenital anomalies in Europe / Helen Dolk, Maria Loane, and Ester Garne -- Rare autoimmune diseases / Arrigo Schieppati and Erica Daina -- Epidemiology of rare anaemias in Europe / Beatrice Gulbis ... [et al.] -- Inherited metabolic rare disease / Teresa Pampols -- The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities / Diana Schendel, Catherine Rice, and Christopher Cunniff -- Creating a European Union framework for actions in the field of rare diseases / Antoni Montserrat Moliner -- National plans and strategies on rare diseases in Europe / Domenica Taruscio, Luciano Vittozzi, and Rumen Stefanov -- Ethical aspects on rare diseases / Luis A. Barrera and Gilberto Cely Galindo -- Advocacy groups and their role in rare diseases research / Mary Dunkle, Wayne Pines, and Peter L. Saltonstall. |
