Reference:
Maurizio Giustetto
Abstract:
The majority of cases of Rett syndrome are caused by mutations in the gene encoding MECP2, a protein which binds DNA and regulates the expression of other genes, including that of brain?derived neurotrophic factor (BDNF), a major neurotrophin involved in brain development. No effective cure is available for this disease. The applicant has gathered a multidisciplinary group made of people expert in molecular and cell biology, physiology and ultrastructural imaging, to study the progression of the disease in mouse models using the high-definition techniques. This should shed light on new alterations underlying the disease and could give the researcher markers to be used to monitor disease progression objectively and to assess the efficacy of experimental therapies. The goal of this project is a detailed analysis of a deficit in the mechanisms controlling the development and functions of the inhibitory networks that they began to characterize in the brain of animal models of Rett syndrome – See more at: http://www.rettsyndrome.org/research-programs/funded-projects/research-awardees-2011#sthash.dd1Ofrop.dpuf
PROJECT DETAILS
beginning: 2011.
end: 2013.
Country of research: Italy
Counry of funding source: United States
Funding organization: Regular Research Grant, International Rett Syndrome Foundation
Financing: PRIVATE FUNDERS – 146 872 €