Search and identification of new genetic or epigenetic causes of neurodevelopmental disorders involved in chromatin remodeling

Reference: 2. Dra. Sonia Mayo de Andros Abstract: This research project aims to contribute to understanding of the genetic etiology and diagnosis of neurodevelopmental disorders by in silico analysis for the selection of new candidate genes or by looking for genetic abnormalities or markers of epigenetic alterations that can affect both genes and involved in … Read more

Unravelling the Rett syndrome: effects of mecp2 mutations on synaptic function

Reference: GGP13187 Abstract: Rett syndrome (RS) is a disease of the nervous system that manifests itself in baby girls at about 6-18 months of age. It is characterized by the onset of a complex set of neurological signs, including mental retardation, autism, epilepsy. In most cases RS is caused by the loss of function of … Read more

Determination of the role of MeCP2in adult life

Reference: PROJECT2 Abstract: The objective of this project is to determine whether the role of MeCP2 runs out during the early stages of development organism, once induced neuronal maturation, or whether it may also be important in advanced stages of life, possibly exerting a maintenance of different biological activities. The transgenic model we have created … Read more

Identification of Novel Neuronal Substrates of Rett Syndrome: A Morphofunctional Analysis of GABAergic Interneurons in Mouse Models

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 … Read more

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