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23/03/2016

New project at Precipita for research in CADASIL

cadasil_884

23/03/2016

The uniqueness of the project lies in the fact that currently there is no treatment for the disease and the research of this team could contribute to discover its cause and consequently could give new possibilities to find some effective treatment.

The Pharmacogenomics and Neurovascular Genetics laboratory of the http://www.mutuaterrassa.cat/fundaciorecerca/index.php" Teaching and Research Foundation MútuaTerrassa (FMT) has recently opened a project in http://www.precipita.es/proyecto/cadasil-una-enfermedad-genetica-sin-tratamiento.html" Precipita, the first public platform for collective financing of scientific projects, to raise funds to research into CADASIL -a genetic disease without treatment-. The team, composed of four researchers from the Training and Research Foundation MútuaTerrassa -Dr. Israel Fernández and Dr. Elena Muiño-, of the Hospital Institute del Mar for Medical Research (IMIM) -Dr. James Roquer- and Vall d'Hebron Research Institute -Dr. Joan Montaner-, aim to help understand the cause of this disease.CADASIL is the most common cause of hereditary vascular dementia, the leading cause of genetic ischemic strokes and crippling diseases at early ages. It is caused by mutations in the gene NOTCH3 but it is currently unknown why do these mutations occur, which makes the possibility of finding an effective treatment more challenging. However, the Teaching and Research Foundation MútuaTerrassa team has recently found that there is a protein that can intervene in the appearance of this disease and therefore intends to analyze it in order to verify their association to the disease.The uniqueness of the project lies in the fact that currently there is no treatment for the disease and the research of this team could contribute to discover its cause and consequently could give new possibilities to find some effective treatment.Recently, through the Precipita platform contributions, the minimum target (1000 euros) in order to finance the study of the effect of the protein in patients with CADASIL and determine if it intervenes in the development of the disease has been reached . If, within 53 days remaining to the completion, the optimal goal (6000 euros) is achieved, it will be possible to analyse the whole gene NOTCH3 to rule out other possible mutations that may cause erroneous interpretations of the results and then carry out the study in more patients and establish more consistent conclusions as well. Finally, if it exceeds this target, new in-vitro studies could be made to analyze potential inhibitors of the protein of interest and study if these could be beneficial in the treatment of CADASIL. UPDATE: the project on migranodearena.org raised 2,700 euros that will fund the experiments suggested.

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