Creating an experimental modelreproducing a pathogenic mutation of MeCP2

Reference:
Project3

Abstract:
Objective: the majority of animal models of the syndrome Rett available today represent only part of what that actually happens in patients, because most patients are not deprived of the entire gene, but only a small portion of it, or even have change only one amino acid. This project has set itself the ambitious goal of creating a transgenic animal in which a only amino acid of MeCP2 will be modified in order to recreate a pathogenic mutation found in Rett patients. The characterization of this animal model will represent a model closer to reality on which to assess in general the mechanism of action of MeCP2 and the effectiveness of potential drug treatments.

PROJECT DETAILS 

beginning: 2010.

end: 2012.

Country of research: Italy

Counry of funding source: Italy

Funding organization: Pro Rett Ricera

Financing: PRIVATE FUNDERS – 90 000 €

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