Rett Syndrome and Hanefeld variant:analysis of the molecular pathways common to both diseases

Reference:
Project5

Abstract:
Rett syndrome and its variant “of Hanefeld” are caused by mutations that affect two different genes, respectively MeCP2 and CDKL5. The aim of this project is the systematic analysis of the gene expression profile of neurons lacking MeCP2 or CDKL5. From the comparison of the obtained data we can determine which pathways are common and which diverge, leading, hopefully finally the ability to associate specific symptoms of the syndrome Rett molecular defects in actions brought by medication.

PROJECT DETAILS 

beginning: 2010.

end: 2012.

Country of research: Italy

Counry of funding source: Italy

Funding organization: Pro Rett Ricera

Financing: PRIVATE FUNDERS – 80 000 €

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