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The impact and burden of disease of the rare diseases (RD) is not known, also the type of disability that entail. The objective of the work is to analyze the socio-sanitary impact of the RD in Spain.This is a nationwide study. The dimensions used were mobility, personal care and daily activities of the EUROQoL-5D questionnaire […]
…The Committee on Ethics of the Instituto de Investigacion de Enfermedades Raras (CEIIER) of the Spanish National Institute of Health Carlos III, presents this article dealing with ethical guidelines regarding the implementation of screening population programmes with special emphasis on genetic screening. After a critical review it has been addressed 24 recommendations concerning 14 topics: […]
…The management of orphan rare diseases has been the goal of two successive government plans since 2004. They allowed the management of these diseases to be handled initially through reference centers, then by specialized centers that were specifically created. The resulting benefits to patients, standardization of management protocols, dissemination of information through ORPHANET, and the […]
…Treatment of rare diseases is often complicated due to the difficulties posed by the research and development of medicines by the pharmacological industry. One of the greatest concerns of this group of patients, which is both scarce and diverse, is access to available medicines. The European Medicine Agency establishes the term orphan medicines and the […]
…There is substantiated appropriateness of the establishment of the University Center on Rare Diseases. It is indicated that the center could illustrate a successful integration of the clinical sector into the system of medical education. The model of the functioning of center and its regulations are presented. The main topics of the special teaching module […]
…Background:Orphanet is a database of rare diseases which includes a directory of services providing information on professional experts working either in laboratories offering diagnostic tests or in specialized outpatient clinics. The printed directory is sent to these experts, to all relevant hospital departments (public and private), healthcare authorities, and patient support groups. The directory is […]
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