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OTHER ACTIVITIES
Service for handling queries by patients and professionals
CIBERER and Orphanet receives a large number of queries which we try to respond to provide guidance to patients in searching for the possible answers to the questions they are asking . To that end we have the immeasurable help of CIBERER researchers and clinicians and of the Orphanet Scientific Committee members as well as the FEDER Patient Information Service and Guidance, SIO .
In 2014 a total of 138 queries were received, half of which arrived through the Orphanet web page and approximately a third of the total came from patients from Central and south American countries .
Crowd Funding Campaigns
There is no doubt that in the last years we have lived through an explosion of information concerning the existence of rare disease and how patients and their families had been ignored before that . Fortunately, and although there is still much to discover, we are witnessing nowadays a steady increase in social, scientific and political awareness of the need for and importance of research on RDs and to support and give answers and solutions to those suffering from these pathologies .
RD patient associations have, by making their reality visible, raised awareness and involved society in the cause . Several research projects have been funded or co-funded with crowd funding initiatives that patients with rare diseases have led jointly with researchers CIBERER in 2014:
• Through the Plataforma Precipita started up by FECYT:
- Dr . Montserrat Milà -U726 started up a crowd funding campaign for research which seeks to evaluate the costs and viability of neonatal screening of Fragile X Syndrome . With the new technologies, we can exploit the samples of blood taken from newborns with current neonatal screening to identify those affected by Fragile X Syndrome, which is the most common cause of familial intellectual disabilities .
- Dr . Santiago Rodríguez de Córdaba-U738 CIBERER for a project to develop drugs for atypical haemolytic uremic syndrome .
- Dr . Mercedes Serrano- U703 for instructive videos on RDs for families and patients
- Dr . Cristina Fillat-U716 for the creation of a videogame for cognitive stimulation of people with intellectual disabilities
- Dr . Daniel Grinberg- U720 for conducting research on the identification of the gene responsible for Opitz C syndrome .
• Dr . Mercedes Serrano and Dr . Belén Pérez, both of U703, are driven by the solidarity challenge #ultratorozos, in favour of research . The athlete Lisandro Caravaca ran 100 km in the area of the Montes Torozos for the purpose of raising money for biomedical research on Lowe syndrome, CDG syndrome and neurodegenerative diseases with an accumulation of iron in the brain
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