Early diagnosis and the momentum of the translational research key to rare diseases.
Early diagnosis and the momentum of translational research, key in rare diseases. Spain, July 2012.- it is estimated that currently exist between five thousand and eight thousand rare different diseases, affecting nearly three million Spaniards, of which 80 per cent are of genetic origin. The reality of these pathologies and their patients have been analyzed at the headquarters of the WTO in the day rare diseases ” by experts, scientists, political representatives and concerned, with the aim of making visible the problems that society faces to give solutions to the needs that generate this type of pathologyaggravated by the current economic situation. In this seminar, organized by the Foundation for the formation of the WTO with the Spanish Association of rare diseases AER-ACMEIM, analysed aspects related to early detection and treatment of these pathologies, underlining the importance of early diagnosis with tools such as neonatal metabolic screening to obtain a better result in the pronostico of these patients. This simple test, popularly known as proof of the heel ”, takes place in the first days of life through heel Lance. It is aimed at the early detection of metabolic disorders in which there is an effective intervention that favourably modifies the prognosis of situations subject to screening. Its realization, based on the evidence, is spreading increasingly at European level, at the national level and in the various autonomous communities,...
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