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About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria
Date:2/28/2013

different mutations associated with the disease progression. It is the first time we describe the disease progression" explains the leading researcher Miguel Lpez de Heredia.

Lopez de Heredia explains that "this study is only a first approximation. We must keep in mind that we have studied all the publications of Wolfram syndrome patients published during the last 15 years, made with different methodologies and criteria. There is a lack of homogeneity in the data."

Precisely for this reason it is important the work being done in the European and Spanish registres of rare diseases. "There we have all the information," says Nunes, "now we need to work with more data. And one of the problems of the research on rare diseases is to obtain a sufficient number of samples to be useful in the research".


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Contact: Arantxa Mena
comunicacio@idibell.cat
IDIBELL-Bellvitge Biomedical Research Institute
Source:Eurekalert

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